HGVS | BIC | Class | Last Classified | Rationale | Historical Class |

ATM c.1066-6T>G | ATM IVS 10-6 T>G | 1 | 1/12/2017 | Not pathogenic based on large-scale breast cancer case-control analysis | LCS |

ATM c.4258C>T (p.Leu1420Phe) | ATM 4258 C>T (L1420F) | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | PM |

ATM c.7271T>G (p.Val2424Gly) | ATM 7271 T>G (V2424G) | 5 | 1/12/2017 | The ATM c.7271T>G variant has been found in research studies to confer a higher risk of breast cancer similar to that associated with a germline BRCA2 pathogenic variant. | P |

ATM c.8158G>C (p.Asp2720His) | ATM 8158 G>C (D2720H) | 3 | 1/12/2017 | Insufficient evidence for assocation with high risk of breast cancer (i.e. equivalent to that associated with germline BRCA1 or BRCA2 pathogenic variant). | UV |

BRCA1 c.(?_-232)_4185+?del | BRCA1 del exons 1_12 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.(?_-232)_441+?del | BRCA1 del exons 1_7 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.(?_-232)_5074+?del | BRCA1 del exons 1_17 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.(?_-232)_5277+?del | BRCA1 del exons 1_20 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.(?_-232)_5467+?del | BRCA1 del exons 1_23 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | LGR |

BRCA1 c.(?_-232)_80+?del | BRCA1 del exons 1_2 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.*1139G>T | BRCA1 g.84198 G>T (3' UTR) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA1 c.*1287C>T | BRCA1 g.84346 C>T (3' UTR) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.*1332G>A | BRCA1 g.84391 G>A (3' UTR) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | PM |

BRCA1 c.*421G>T | BRCA1 g.83481 G>T (3' UTR) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.1018del (p.Val340Ter) | BRCA1 1137 del G (STOP 340) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.1036C>T (p.Pro346Ser) | BRCA1 1155 C>T (P346S) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | UV |

BRCA1 c.1067A>G (p.Gln356Arg) | BRCA1 1186 A>G (Q356R) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.1102G>T (p.Glu368Ter) | BRCA1 1221 G>T (E368X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.1106_1108del (p.Asp369del) | BRCA1 1224_1226 del GAT (D369del) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | LCS |

BRCA1 c.1150G>T (p.Glu384Ter) | BRCA1 1269 G>T (E384X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.1175_1214del (p.Leu392GlnfsTer5) | BRCA1 1294_1333 del 40 (STOP 397) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.122A>G (p.His41Arg) | BRCA1 241 A>G (H41R) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UVP |

BRCA1 c.1287dup (p.Asp430ArgfsTer6) | BRCA1 1406_1407 ins A (STOP 435) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.131G>T (p.Cys44Phe) | BRCA1 250 G>T (C44F) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | P |

BRCA1 c.1326T>A (p.Cys442Ter) | BRCA1 1445 T>A (C442X) | 5 | 19/03/2019 | Variant allele predicted to encode a truncated non-functional protein. | |

BRCA1 c.134+3A>T | | 3 | 4/07/2019 | Insufficient evidence. Variant is reported as "LOF" in functional assay, Findlay et al 2018.: LRG_292t1:c.134+3A>T | UV |

BRCA1 c.135-?_212+?del | BRCA1 del exon 5 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.135-?_441+?dup | BRCA1 duplication exons 5_7 | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | LGR |

BRCA1 c.135-1G>T (p.Phe46_Arg71del) | BRCA1 IVS 3-1 G>T | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | P |

BRCA1 c.1352C>A (p.Ser451Ter) | BRCA1 1471 C>A (S451X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.135-53T>C | BRCA1 IVS 4-53 T>C | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.1360_1361del p.(Ser454*) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.1360_1361del | P |

BRCA1 c.1423A>T (p.Ser475Cys) | BRCA1 1542 A>T (S475C) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.1456T>C (p.Phe486Leu) | BRCA1 1575 T>C (F486L) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.1471C>T (p.Gln491Ter) | BRCA1 1590 C>T (Q491X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.1486C>T (p.Arg496Cys) | BRCA1 1605 C>T (R496C) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.1487G>A (p.Arg496His) | BRCA1 1606 G>A (R496H) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | PM |

BRCA1 c.1501_1504del p.(Lys501*) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.1501_1504del | P |

BRCA1 c.1504_1508del (p.Leu502AlafsTer2) | BRCA1 1623_1627 del TTAAA (STOP 505) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.1510del p.(Arg504Valfs*28) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.1510del | P |

BRCA1 c.1621C>T (p.Gln541Ter) | BRCA1 1740 C>T (Q541X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.1648A>C (p.Asn550His) | BRCA1 1767 A>C (N550H) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.1687C>T (p.Gln563Ter) | BRCA1 1806 C>T (STOP 563) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.178C>T (p.Gln60Ter) | BRCA1 297 C>T (Q60X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.181T>C p.(Cys61Arg) | | 3 | 4/07/2019 | Insufficient evidence. Variant is at the same base as C61G that is considered pathogenic but no other evidence.: LRG_292t1:c.181T>C | UV |

BRCA1 c.181T>G (p.Cys61Gly) | BRCA1 300 T>G (C61G) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA1 c.1823_1826del (p.Lys608IlefsTer3) | BRCA1 1942_1945 del AGAA (STOP 610) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.184C>T p.(Pro62Ser) | | 3 | 4/07/2019 | Insufficient evidence: LRG_292t1:c.184C>T | UV |

BRCA1 c.1881_1882insCC (p.Ser628ProfsTer5) | BRCA1 2000 insCC (STOP 633) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.188T>A (p.Leu63Ter) | BRCA1 307 T>A (L63X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.-19-?_(*1_?)del | BRCA1 del exons 2_24 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.-19-115T>C | BRCA1 IVS 1-115 T>C | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.-19-134T>C | BRCA1 IVS1-134T>C | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.1916T>A (p.Leu639Ter) | BRCA1 2035 T>A (L639X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.-19-235G>A | BRCA1 IVS1-235A>G | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.1953_1956del (p.Lys653SerfsTer47) | BRCA1 2072_2075 del GAAA (STOP 700) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.1954del p.(Lys654Serfs*47) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.1954del | P |

BRCA1 c.1961del (p.Lys654SerfsTer47) | BRCA1 2080 del A (STOP 700) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.1961dup (p.Tyr655ValfsTer18) | BRCA1 2080_2081 ins A (STOP 672) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.1983_1991del (p.His662_Arg664del) | BRCA1 2099_2107 del 9 (H662_R664del) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA1 c.-20+101C>G | BRCA1 IVS 1+101 C>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.2019del (p.Glu673AspfsTer28) | BRCA1 2138 del A (STOP 700) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2071del (p.Arg691AspfsTer10) | BRCA1 2190 del A (STOP 700) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2074del (p.His692MetfsTer9) | BRCA1 2193 del C (STOP 700) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2077G>A (p.Asp693Asn) | BRCA1 2196 G>A (D693N) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.2082C>T (p.=) | BRCA1 2201 C>T (S694S) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.211A>G p.(Arg71Gly) | | 5 | 4/07/2019 | Multifactorial likelihood analysis: LRG_292t1:c.211A>G | P |

BRCA1 c.212+1G>T | BRCA1 IVS 5+1 G>T | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | Sp |

BRCA1 c.212+3A>G | | 5 | 4/07/2019 | Multifactorial likelihood analysis: LRG_292t1:c.212+3A>G | P |

BRCA1 c.212+3A>G p.(=) | | 5 | 4/07/2019 | Multifactorial likelihood analysis: LRG_292t1:c.212+3A>G | P |

BRCA1 c.213-11T>G (p.Arg71SerfsTer10) | BRCA1 IVS 5-11 T>G (STOP 75) | 5 | 1/12/2017 | Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts. | P |

BRCA1 c.213-161A>G | BRCA1 IVS 5-161 A>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.2180C>T (p.Pro727Leu) | BRCA1 2299 C>T (P727L) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.2188_2201del (p.Glu730ThrfsTer5) | BRCA1 2307_2320 del14 | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2188G>T p.(Glu730*) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.2188G>T | P |

BRCA1 c.2263del (p.Glu755LysfsTer10) | BRCA1 2382 del G (STOP 764) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2269del (p.Val757PhefsTer8) | BRCA1 2388 del G (STOP 764) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2311T>C (p.=) | BRCA1 2430 T>C (L771L) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.2315T>C (p.Val772Ala) | BRCA1 2434 T>C (V772A) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.2338C>T (p.Gln780Ter) | BRCA1 2457 C>T (Q780X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2389G>T (p.Glu797Ter) | BRCA1 2508 G>T (E797X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2411_2412del (p.Gln804LeufsTer5) | BRCA1 2530_2531 del AG (STOP 808) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2412G>C (p.Gln804His) | BRCA1 2531 G>C (Q804H) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.2437G>T (p.Gly813Ter) | BRCA1 2556 G>T (G813X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2475del (p.Asp825GlufsTer21) | BRCA1 2594 del C (STOP 845) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2477C>A (p.Thr826Lys) | BRCA1 2596 C>A (T826K) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.2521C>T (p.Arg841Trp) | BRCA1 2640 C>T (R841W) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.2558dup (p.Asp853GlufsTer50) | BRCA1 2676_2677 ins A (STOP 902) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2561_2562insGC p.(Gln855Leufs*39) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.2561_2562insGC | P |

BRCA1 c.2562_2563insGC (p.Gln855AlafsTer39) | BRCA1 2681_2682 ins GC (STOP 893) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2566T>C (p.Tyr856His) | BRCA1 2685 T>C (Y856H) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.2596C>T (p.Arg866Cys) | BRCA1 2715 C>T (R866C) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.2612C>T (p.Pro871Leu) | BRCA1 2731 C>T (P871L) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.2612dup p.(Phe872Valfs*31) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.2612dup | P |

BRCA1 c.2641G>T (p.Glu881Ter) | BRCA1 2760G>T (E881X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2657_2658del (p.Ser886CysfsTer16) | BRCA1 2776_2777 del CT (STOP 901) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2679_2682del (p.Lys893AsnfsTer106) | BRCA1 2798_2801 del GAAA (STOP 998) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2681_2682del (p.Lys894ThrfsTer8) | BRCA1 2800_2801 del AA (STOP 901) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2710G>T (p.Glu904Ter) | BRCA1 2829 G>T (E904X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2713C>T (p.Gln905Ter) | BRCA1 2832 C>T (Q905X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2759T>C (p.Val920Ala) | BRCA1 2878 T>C (V920A) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.2800C>T (p.Gln934Ter) | BRCA1 2919 C>T (Q934X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2805dup (p.Asp936ArgfsTer2) | BRCA1 2921 ins A (STOP 937) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2834_2836delinsC (p.Ser945ThrfsTer6) | BRCA1 2953 del GTA ins C (STOP 950) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2866_2870del (p.Ser956ValfsTer13) | BRCA1 2982_2986 del TCATC (STOP 968) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2887del (p.Thr963LeufsTer37) | BRCA1 3006 del A (STOP 999) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.288C>T (p.=) | BRCA1 407 C>T (D96D) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | SV |

BRCA1 c.2912A>G (p.His971Arg) | BRCA1 3031 A>G (H971R) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.2933dup (p.Tyr978Ter) | BRCA1 3052 ins A (Y978X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2963C>A (p.Ser988Ter) | BRCA1 3082 C>A (S988X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.2999del (p.Glu1000GlyfsTer24) | BRCA1 3118 del A (STOP 1023) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3005del p.(Asn1002Thrfs*22) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.3005del | P |

BRCA1 c.301+26A>C | BRCA1 IVS 6+26 C>A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA1 c.301+27C>A | BRCA1 IVS 6+27 A>C | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA1 c.301+32A>G | BRCA1 IVS 6+32 A>G | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.302-102A>G | BRCA1 IVS 6-102 A>G | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.302-2delA | BRCA1 IVS 6-2 del A | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | P |

BRCA1 c.3024G>A (p.Met1008Ile) | BRCA1 3143 G>A (M1008I) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.3083G>A (p.Arg1028His) | BRCA1 3202 G>A (R1028H) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.3113A>G (p.Glu1038Gly) | BRCA1 3232 A>G (E1038G) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.3119G>A (p.Ser1040Asn) | BRCA1 3238 G>A (S1040N) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.3155del (p.Asn1052MetfsTer10) | BRCA1 3274 del A (STOP 1061) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3194_3195insG (p.Asp1065GlufsTer2) | BRCA1 3313_3314 ins G (STOP 1066) | 0 | 1/12/2017 | Variant allele predicted to rescue truncation by splicing. | P |

BRCA1 c.3228_3229del (p.Gly1077AlafsTer8) | BRCA1 3347_3348 del AG (STOP 1084) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3239T>A (p.Leu1080Ter) | BRCA1 3358 T>A (L1080X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3254_3255dup (p.Leu1086AspfsTer2) | BRCA1 3374_3375 ins GA (STOP 1087) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3256_3257insGA (p.Leu1086Ter) | BRCA1 3375_3376 ins GA (STOP 1087) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3257T>G p.(Leu1086*) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.3257T>G | P |

BRCA1 c.3296C>T (p.Pro1099Leu) | BRCA1 3415 C>T (P1099L) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.3327A>C (p.Lys1109Asn) | BRCA1 3446 A>C (K1109N) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.3331_3334del (p.Gln1111AsnfsTer5) | BRCA1 3450_3453 del CAAG (STOP 1115) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3339T>G (p.Tyr1113Ter) | BRCA1 3458 T>G (Y1113X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3342_3345del p.(Glu1115*) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.3342_3345del | P |

BRCA1 c.3378A>G p.(=) | | 3 | 4/07/2019 | Insufficient information: LRG_292t1:c.3378A>G | UV |

BRCA1 c.3397_3398del (p.Leu1133ArgfsTer7) | BRCA1 3516_3517 del TT (STOP 1139) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3400G>T (p.Glu1134Ter) | BRCA1 3519 G>T (E1134X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3403C>T (p.Gln1135Ter) | BRCA1 3522 C>T (Q1135X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3463G>C (p.Asp1155His) | BRCA1 3582 G>C (D1155H) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.3481_3491del (p.Glu1161PhefsTer3) | BRCA1 3600_3610 del GAAGATACTAG (STOP 1163) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.34C>T (p.Gln12Ter) | BRCA1 153 C>T (Q12X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3548A>G (p.Lys1183Arg) | BRCA1 3667 A>G (K1183R) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.3598C>T (p.Gln1200Ter) | BRCA1 3717 C>T (Q1200X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3607C>T (p.Arg1203Ter) | BRCA1 3726 C>T (R1203X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3627dup (p.Glu1210ArgfsTer9) | BRCA1 3746 ins A (STOP 1218) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3668_3671dup (p.Cys1225SerfsTer10) | BRCA1 3790_3791 ins TTCC (STOP 1234) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3700_3704del (p.Val1234GlnfsTer8) | BRCA1 3819_3823 del GTAAA (STOP 1242) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3706_3707del (p.Asn1236TyrfsTer7) | BRCA1 3825_3826 del AA (STOP 1242) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3708T>G (p.Asn1236Lys) | BRCA1 3827 T>G (N1236K) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.3718C>T (p.Gln1240Ter) | BRCA1 3837 C>T (Q1240X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3756_3759del (p.Ser1253ArgfsTer10) | BRCA1 3875_3878 del GTCT (STOP 1263) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3759dup p.(Lys1254*) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.3759dup | P |

BRCA1 c.3767_3768del (p.Thr1256ArgfsTer10) | BRCA1 3886 delCA (STOP 1266) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.3869_3870del (p.Lys1290MetfsTer4) | BRCA1 3988_3989 del AA (STOP 1293) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.396C>A (p.Asn132Lys) | BRCA1 515 C>A (N132K) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.3973del (p.Arg1325GlyfsTer11) | BRCA1 4092 del A (STOP 1335) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4035del (p.Glu1346LysfsTer20) | BRCA1 4154 del A (STOP 1365) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4039A>G (p.Arg1347Gly) | BRCA1 4158 A>G (R1347G) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.4065_4068del (p.Asn1355LysfsTer10) | BRCA1 4182_4184 del 4 (STOP 1364) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.407del p.(Arg136Asnfs*27) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.407del | P |

BRCA1 c.4097-141A>C | BRCA1 IVS 11-141 A>C | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.4113del (p.Cys1372ValfsTer21) | BRCA1 4232 del G (STOP 1392) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4183C>T (p.Gln1395Ter) | BRCA1 4302 C>T(Q1395X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4185+2del21insA | BRCA1 IVS 12+2 del 21 ins A | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | P |

BRCA1 c.4185+9C>T | BRCA1 IVS 12+9 C>T | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.4186-?_4675+?del | BRCA1 del exons 13_15 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.4186-1787_435 | BRCA1 Ex 13 Dup'n (STOP 1460) g44369_50449 dup 6kb | 5 | 1/12/2017 | Copy number duplication variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.425C>A (p.Pro142His) | BRCA1 544 C>A (P142H) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.4266dup (p.Ser1423GlufsTer5) | BRCA1 4382 ins G (STOP 1427) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4274C>T (p.Pro1425Leu) | BRCA1 4393 C>T (P1425L) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA1 c.427G>T (p.Glu143Ter) | BRCA1 546 G>T (E143X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4308T>C (p.=) | BRCA1 4427 T>C (S1436S) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.4327C>T (p.Arg1443Ter) | BRCA1 4446 C>T (R1443X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4335_4338dup p.(Gln1447Argfs*16) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.4335_4338dup | P |

BRCA1 c.4357+117G>A | BRCA1 IVS 13+117 G>A | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.4357+6T>C | | 3 | 4/07/2019 | Borderline variant - UK labs call it Class 5 pathogenic based on unpublished splice assay | |

BRCA1 c.4358-?_5277+?del | BRCA1 del exons 14_20 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | LGR |

BRCA1 c.4373_4389del (p.Gln1458ProfsTer12) | BRCA1 4491_4507 del 17 (STOP 1469) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.441+36_441+37del | BRCA1 IVS 7+36 del CT | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.441+64dup | BRCA1 IVS 7+39 ins T | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.442-34C>T | BRCA1 IVS 7-34 C>T | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.4479_4484+2dup (p.?) | BRCA1 IVS 14+2 ins 8 | 4 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA1 c.4484+1delG | BRCA1 IVS 14+1 delG | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). Frequency >1% in an outbred sampleset | Sp |

BRCA1 c.4484+49A>G | BRCA1 IVS 14+49 A>G | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.4484G>C (p.Arg1495Thr) | BRCA1 4603 G>C (R1495T) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA1 c.4484G>T p.(Arg1495Met) | | 5 | 4/07/2019 | Multifactorial likelihood analysis: LRG_292t1:c.4484G>T | P |

BRCA1 c.4485-?_5074+?del p.(Ser1496Cysfs*2) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.4485-?_5074+?del | P |

BRCA1 c.4485-43A>G | BRCA1 IVS 14-43 A>G | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.4485-63C>G | BRCA1 IVS 14-63 C>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.4485-66C>G | BRCA1 IVS 14-66 C>G | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.4485-8C>T | BRCA1 IVS 14-8 C>T | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.4511T>A p.(Leu1504*) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.4511T>A | P |

BRCA1 c.4535G>T (p.Ser1512Ile) | BRCA1 4654 G>T (S1512I) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.4568_(5592_?)del | | 5 | 4/07/2019 | Large deletion including functional domain: LRG_292t1:c.4568_(5592_?)del | P |

BRCA1 c.4570del (p.Ser1524LeufsTer24) | BRCA1 4689 del T (STOP 1547) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4574_4575del (p.Gln1525ArgfsTer5) | BRCA1 4693_4694 del AA (STOP 1529) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4576G>T (p.Glu1526Ter) | BRCA1 4695 G>T (E1526X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4600G>A (p.Val1534Met) | BRCA1 4719 G>A (V1534M) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.4636G>A (p.Asp1546Asn) | BRCA1 4755 G>A (D1546N) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.4676-?_5074+?del | BRCA1 del exons 16_17 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.4676-16C>G | | 2 | 4/07/2019 | Multifactorial likelihood analysis: LRG_292t1:c.4676-16C>G | UV |

BRCA1 c.4689C>G (p.Tyr1563Ter) | BRCA1 4808 C>G (Y1563X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.470_471del (p.Ser157Ter) | BRCA1 589_590 del CT (STOP 157) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4812A>G (p.=) | BRCA1 4931 A>G (Q1604Q) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | LCS |

BRCA1 c.4837A>G (p.Ser1613Gly) | BRCA1 4956 A>G (S1613G) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.4837del (p.Ser1613ValfsTer20) | BRCA1 4956 del A (STOP 1632) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4936del (p.Val1646SerfsTer12) | BRCA1 5055 del G (STOP 1657) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.4956G>A (p.Met1652Ile) | BRCA1 5075 G>A (M1652I) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | LCS |

BRCA1 c.4964_4982del p.(Ser1655Tyrfs*16) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.4964_4982del | P |

BRCA1 c.4986+117A>T | BRCA1 IVS 16+117 A>T | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.4986+222A>G | BRCA1 IVS 16+222 A>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.4986+224A>G | BRCA1 IVS 16+224 A>G | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.4986+3G>C | | 3 | 4/07/2019 | Conflicting evidence | UV |

BRCA1 c.4987-68A>G | BRCA1 IVS 16-68 A>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.4987-92A>G | BRCA1 IVS 16-92 A>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.4991T>C (p.Leu1664Pro) | BRCA1 5110 T>C (L1664P) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.5035_5039del (p.Leu1679TyrfsTer2) | BRCA1 5149 del 5 (STOP 1680) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.5066T>A (p.Met1689Lys) | BRCA1 5185 T>A (M1689K) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA1 c.5074+1G>T | BRCA1 IVS 17+1 G>T | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). Frequency >1% in an outbred sampleset | P |

BRCA1 c.5074+65G>A | BRCA1 IVS 17+65 G>A | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.5074+66G>A | BRCA1 IVS 17+66 G>A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.5075-53C>T | BRCA1 IVS 17-53 C>T | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.5095C>T (p.Arg1699Trp) | BRCA1 5214 C>T (R1699W) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA1 c.5096G>A (p.Arg1699Gln) | BRCA1 5215 G>A (R1699Q) | 5 | 1/12/2017 | Comprehensive genetic analysis indicates this variant is associated with an intermediate risk of cancer. | UV |

BRCA1 c.5117G>C (p.Gly1706Ala) | BRCA1 5236 G>C (G1706A) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.5123C>A (p.Ala1708Glu) | BRCA1 5242 C>A (A1708E) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA1 c.5123C>T (p.Ala1708Val) | BRCA1 5242 C>T (A1708V) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.514del (p.Gln172AsnfsTer62) | BRCA1 633 del C (STOP 233) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.5152+15A>G | BRCA1 IVS 18+15 A>G | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.5152+1G>T | BRCA1 IVS 18+1 G>T (del exon 18) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA1 c.5152+66G>A | BRCA1 IVS 18+66 G>A | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.5152+73A>G | BRCA1 IVS 18+73 A>G | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.5152+85del | | 1 | 4/07/2019 | Multifactorial likelihood analysis AND >1% frequency in gnomAD: LRG_292t1:c.5152+85del | LCS |

BRCA1 c.5181_5182del (p.Lys1727AsnfsTer4) | BRCA1 5300 delAA (STOP 1731) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.5193+1G>A | BRCA1 IVS 19+1 G>A | 4 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA1 c.5193+2del | | 5 | 4/07/2019 | Multifactorial likelihood analysis: LRG_292t1:c.5193+2del | P |

BRCA1 c.5194-?_5277+?del | BRCA1 del exon 20 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.5194-?_5277+?delinsG | BRCA1 del exon 20 ins G | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.5194-12G>A | BRCA1 IVS 19-12 G>A | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UVP |

BRCA1 c.520del (p.Gln174LysfsTer60) | BRCA1 639 del C (STOP 233) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.5212G>A (p.Gly1738Arg) | BRCA1 5331 G>A (G1738R) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA1 c.5251C>T (p.Arg1751Ter) | BRCA1 5370 C>T (R1751X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.5266dup (p.Gln1756ProfsTer74) | BRCA1 5382_5383 ins C (STOP 1829) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.5277+1G>A | BRCA1 IVS 20+1 G>A | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA1 c.5277+78G>A | BRCA1 IVS 20+78 G>A | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | DIV |

BRCA1 c.5278-?_(*1_?)del | BRCA1 del exons 21_24 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | LGR |

BRCA1 c.5278-?_(5592_?)del | | 5 | 4/07/2019 | Large deletion including functional domain: LRG_292t1:c.5278-?_(5592_?)del | P |

BRCA1 c.5278-?_5406+?del | BRCA1 del exons 21_22 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.5278-?_5406+?del p.(Ile1760_Thr1802del) | | 5 | 4/07/2019 | Large deletion including functional domain: LRG_292t1:c.5278-?_5406+?del | P |

BRCA1 c.5278-?_5467+?del | BRCA1 del exons 21_23 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | LGR |

BRCA1 c.5278-19T>A | | 2 | 4/07/2019 | Not predicted to alter splicing and intronic variant (no amino acid change, akin to synonymous variant).: LRG_292t1:c.5278-19T>A | UV |

BRCA1 c.5278-70A>C | BRCA1 IVS 20-70 A>C | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.5310del (p.Phe1772SerfsTer21) | BRCA1 5429 del G (STOP 1792) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.5324T>A (p.Met1775Lys) | BRCA1 5443 T>A (M1775K) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA1 c.5333-153A>G | BRCA1 IVS 21-153 A>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | DIV |

BRCA1 c.5333-36_5406+400del | BRCA1 IVS 21-36 del 510 (STOP 1805) | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.5357T>C (p.Leu1786Pro) | BRCA1 5476T>C (L1786P) | 4 | 10/12/2018 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Easton et al (2007). | P |

BRCA1 c.536A>G (p.Tyr179Cys) | BRCA1 655 A>G (Y179C) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.5406+54G>A | BRCA1 IVS 22+54 G>A | 3 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | DIV |

BRCA1 c.5407-193A>G | BRCA1 IVS 22-193 A>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.5467+5G>C | BRCA1 IVS 23+5 G>C | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.5467G>A (p.Gly1803GlnfsTer11) | BRCA1 5586 G>A (A1823T) | 5 | 1/12/2017 | Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts. | P |

BRCA1 c.5468-?_(*1_?)del | BRCA1 del exon 24 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | LGR |

BRCA1 c.5468-?_(*351_?)del | | 5 | 4/07/2019 | Large deletion including functional domain: LRG_292t1:c.5468-?_(*351_?)del | P |

BRCA1 c.547+146A>T | BRCA1 IVS 8+146 A>T | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.547+1G>T | BRCA1 IVS 8+1 G>T | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). Frequency >1% in an outbred sampleset | Sp |

BRCA1 c.547+2T>A (p.Gln148AspfsTer51) | BRCA1 IVS8+2T>A | 5 | 1/12/2017 | Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts. | P |

BRCA1 c.548-25del | BRCA1 IVS 8-26 del T | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA1 c.548-58delT | BRCA1 IVS 8-58 del T | 1 | 1/12/2017 | Frequency >1% in an outbred sampleset. | PM |

BRCA1 c.5496_5499del (p.Val1833ProfsTer9) | BRCA1 5615_5618 del GGTG (STOP 1841) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.5497G>A (p.Val1833Met) | BRCA1 5616 G>A (V1833M) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA1 c.5503_5564del (p.Arg1835ThrfsTer24) | BRCA1 5622_5684 del 62 (STOP 1858) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.5503C>T (p.Arg1835Ter) | BRCA1 5622 C>T (R1835X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.5513T>A (p.Val1838Glu) | BRCA1 5632 T>A (V1838E) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA1 c.591C>T (p.=) | BRCA1 710 C>T (C197C) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | PM |

BRCA1 c.593+16C>G | BRCA1 IVS 9+16C>G | 3 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.593+76C>T | BRCA1 IVS 9+76 T>C | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.594-225G>A | BRCA1 IVS9-225 G>A | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | DIV |

BRCA1 c.594-2A>C | BRCA1 IVS 9-2 A>C | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.594-34T>C | | 1 | 4/07/2019 | Variant allele has low bioinformatic likelihood to encode a missense alteration affecting protein function (Missense prior probability 0.02), | LCS |

BRCA1 c.594-60del | BRCA1 IVS 9-62 del T | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.64_65dup (p.Leu22PhefsTer2) | BRCA1 184_185 ins TT (STOP 23) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.641A>G (p.Asp214Gly) | BRCA1 760 A>G (D214G) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA1 c.66dup (p.Glu23ArgfsTer18) | BRCA1 185_186 ins A (STOP 40) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.670+16G>A | BRCA1 IVS 10+16 G>A | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | PM |

BRCA1 c.671-178G>A | BRCA1 IVS 10-178 G>A | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | DIV |

BRCA1 c.671-2A>G | BRCA1 IVS 10-2 A>G | 0 | 1/12/2017 | Under investigation | Sp |

BRCA1 c.676del p.(Cys226Valfs*8) | | 5 | 4/07/2019 | Truncating variant: LRG_292t1:c.676del | P |

BRCA1 c.-676T>A | BRCA1 g.2808 T>A | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | PM |

BRCA1 c.68_69del (p.Glu23ValfsTer17) | BRCA1 185_186 del AG (STOP 39) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.70_80del (p.Cys24SerfsTer13) | BRCA1 189_199 del TGTCCCATCTG (STOP 36) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.-728A>G | BRCA1 g.2756 A>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA1 c.-730C>T | BRCA1 g.2754 C>T | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | UV |

BRCA1 c.736T>G (p.Leu246Val) | BRCA1 855 T>G (L246V) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.75C>T (p.=) | BRCA1 194 C>T (P25P) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | PM |

BRCA1 c.798_799del (p.Ser267LysfsTer19) | BRCA1 917_918 del TT (STOP 285) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1 c.80+133T>C | BRCA1 IVS 2+133 C>T | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA1 c.81-?_134+?del | BRCA1 del exon 3 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.81-?_4986+?del | BRCA1 del exons 3_16 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA1 c.81-14C>T | BRCA1 IVS 2-14 C>T | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | PM |

BRCA1 c.81-65G>C | BRCA1 IVS 2-65 G>C | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA1 c.981_982del (p.Cys328Ter) | BRCA1 1100_1101 del AT (STOP 328) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA1c.5277+48_5277+59ins12 | BRCA1 IVS 20+48 ins 12 | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | PM |

BRCA2 c.(?_-227)_(*1_?) | BRCA2 del exons 1_27 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | P |

BRCA2 c.(?_-227)_67+?del | BRCA2 del exons 1_2 | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LGR |

BRCA2 c.*105A>C | BRCA2 10590 A>C (3'UTR) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.*106A>C | BRCA2 IVS 27+105 A>C | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA2 c.*23del | BRCA2 IVS 27+22 del A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.*369A>G | BRCA2 10854 A>G (3'UTR) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.10110G>A (p.=) | BRCA2 10338 G>A (R3370R) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | PM |

BRCA2 c.10232C>G (p.Thr3411Arg) | BRCA2 10460 C>G (T3411R) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.10234A>G (p.Ile3412Val) | BRCA2 10462 A>G (I3412V) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.1097dup (p.Leu366PhefsTer12) | BRCA2 1325_1326 dup T (STOP 377) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1114A>C (p.Asn372His) | BRCA2 1342 C>A (N372H) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.1151C>T (p.Ser384Phe) | BRCA2 1379 C>T (S384F) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.1227G>A (p.=) | BRCA2 1455 G>A (E409E) | 2 | 1/12/2017 | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; (http://priors.hci.utah.edu/PRIORS/)). | LCS |

BRCA2 c.1231del (p.Ile411TyrfsTer19) | BRCA2 1459 del A (STOP 429) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1238del (p.Leu413HisfsTer17) | BRCA2 1466 del T (STOP 429) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.125A>G (p.Tyr42Cys) | BRCA2 353 A>G (Y42C) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.1273G>A (p.Glu425Lys) | BRCA2 1501 G>A (E425K) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.1310_1313del (p.Lys437IlefsTer22) | BRCA2 1537_1540 del AAAG (STOP 458) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1354C>A (p.Leu452Ile) | BRCA2 1582 C>A (L452I) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.1365A>G (p.=) | BRCA2 1593 A>G (S455S) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.1389_1390del (p.Val464GlyfsTer3) | BRCA2 1617_1618 del AG (STOP 466) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1395A>C (p.=) | BRCA2 1623 A>C (V465V) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | PM |

BRCA2 c.1417_1418insTTAG p.(His473Leufs*4) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.1417_1418insTTAG | P |

BRCA2 c.1514T>C (p.Ile505Thr) | BRCA2 1742 T>C (I505T) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.1538A>G (p.Lys513Arg) | BRCA2 1766 A>G (K513R) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.1593dup p.(Glu532Argfs*3) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.1593dup | P |

BRCA2 c.160_161del (p.Asn54GlnfsTer9) | BRCA2 388 del2 (STOP 63) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1689G>A (p.Trp563Ter) | BRCA2 1917 G>A (W563X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1748T>A (p.Leu583Ter) | BRCA2 1976 T>A (L583X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1773_1776del (p.Ile591MetfsTer22) | BRCA2 2000_2003 del TTTA (STOP 612) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1786G>C (p.Asp596His) | BRCA2 2014G>C (D596H) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.1792A>G (p.Thr598Ala) | BRCA2 2020 A>G (T598A) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.1796_1800del (p.Ser599Ter) | BRCA2 2024_2028 del CTTAT (STOP 599) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1796C>T (p.Phe599Ser) | BRCA2 2024 C>T (F599S) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | PM |

BRCA2 c.1813del (p.Ile605TyrfsTer9) | BRCA2 2041_2042 del A (STOP 613) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1813dup (p.Ile605AsnfsTer11) | BRCA2 2041_2042 ins A (STOP 615) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1820A>C (p.Lys607Thr) | BRCA2 2048 A>C (K607T) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.1842dup (p.Asn615Ter) | BRCA2 2070_2071 ins T (STOP 615) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1906del (p.Ser636GlnfsTer8) | BRCA2 2134 delT (STOP 644) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1909+22del | BRCA2 IVS 10+12 del T | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | UV |

BRCA2 c.1910-45G>C | BRCA2 IVS 10-45 G>C | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | DIV |

BRCA2 c.1910-51G>T | BRCA2 IVS 10-51 G>T | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.1910-74T>C | BRCA2 IVS 10-74 T>C | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.1929del (p.Arg645GlufsTer15) | BRCA2 2157 delG (STOP 660) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.1938C>T (p.=) | BRCA2 2166 C>T (S646S) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | PM |

BRCA2 c.1960G>A (p.Glu654Lys) | BRCA2 2188 G>A (E654K) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.198A>G (p.=) | BRCA2 426 A>G (Q66Q) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | SV |

BRCA2 c.2113G>A (p.Glu705Lys) | BRCA2 2341G>A (E705K) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.215_215delinsTT (p.Asn72IlefsTer29) | BRCA2 443 del A ins TT (STOP 100) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.2229T>C (p.=) | BRCA2 2457 T>C (H743H) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.223G>C (p.Ala75Pro) | BRCA2 342 G>C (A75P) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.2308A>T (p.Ile770Phe) | BRCA2 2536 A>T (I770F) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.2320A>G p.(Thr774Ala) | | 2 | 4/07/2019 | Multifactorial likelihood analysis: LRG_293t1:c.2320A>G | UV |

BRCA2 c.2391G>A (p.=) | BRCA2 2619 G>A (K797K) | 2 | 1/12/2017 | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; (http://priors.hci.utah.edu/PRIORS/)). | LCS |

BRCA2 c.243C>T (p.=) | BRCA2 471 C>T (F81F) | 2 | 1/12/2017 | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; (http://priors.hci.utah.edu/PRIORS/)). | PM |

BRCA2 c.250C>T (p.Gln84Ter) | BRCA2 478 C>T (Q84X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.2537C>G (p.Ser846Ter) | BRCA2 2765 C>G (S846X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.2606C>T (p.Ser869Leu) | BRCA2 2834 C>T (S869L) | 3 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.262_263del (p.Leu88AlafsTer12) | BRCA2 490_491 del CT (STOP 99) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.2653G>A (p.Asp885Asn) | BRCA2 2881 G>A (D885N) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.2680G>A (p.Val894Ile) | BRCA2 2799 G>A (V894I) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.26del (p.Pro9GlnfsTer16) | BRCA2 254 del C (STOP 24) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.-26G>A | BRCA2 203 G>A (5'UTR) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.2754C>T (p.=) | BRCA2 2982 C>T (N918N) | 2 | 1/12/2017 | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; (http://priors.hci.utah.edu/PRIORS/)). | PM |

BRCA2 c.2760del (p.Ile921PhefsTer39) | BRCA2 2988 del C (STOP 959) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.2803G>A (p.Asp935Asn) | BRCA2 3031 G>A (D935N) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.2808_2811del (p.Ala938ProfsTer21) | BRCA2 3036_3039 del ACAA (STOP 958) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.2836_2837del (p.Asp946PhefsTer12) | BRCA2 3064 delGA (STOP 958) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.2880del p.(Lys960Asnfs*4) | BRCA2 3108delG | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.2880del | P |

BRCA2 c.2883G>A (p.=) | BRCA2 3111G>A (Q961Q) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | SV |

BRCA2 c.2971A>G (p.Asn991Asp) | BRCA2 3199 A>G (N991D) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.2999T>C p.(Ile1000Thr) | | 3 | 4/07/2019 | Insufficient evidence: LRG_293t1:c.2999T>C | UV |

BRCA2 c.303C>T (p.=) | BRCA2 531 C>T (F101F) | 2 | 1/12/2017 | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; (http://priors.hci.utah.edu/PRIORS/)). | PM |

BRCA2 c.3103G>T (p.Glu1035Ter) | BRCA2 3331 G>T (E1035X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.314T>G (p.Leu105Ter) | BRCA2 542 T>G (L105X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.3158T>G (p.Leu1053Ter) | BRCA2 3386 T>G (L1053X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.316+108A>G | BRCA2 IVS 3+108 A>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | DIV |

BRCA2 c.316+329A>G | BRCA2 IVS 3+329 A>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | DIV |

BRCA2 c.316+330G>A | BRCA2 IVS 3+33 G>A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA2 c.316+33G>A | BRCA2 IVS 3+33 G>A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA2 c.3160_3163del (p.Asp1054IlefsTer5) | BRCA2 3388_3391 del GATA (STOP 1058) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.3396A>G (p.=) | BRCA2 3624 A>G (K1132K) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.3420T>C (p.=) | BRCA2 3648 T>C (S1140S) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | LCS |

BRCA2 c.3515C>T (p.Ser1172Leu) | BRCA2 3743 C>T (S1172L) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | LCS |

BRCA2 c.3516G>A (p.=) | BRCA2 3744 G>A (S1172S) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | SV |

BRCA2 c.3545_3546del (p.Phe1182Ter) | BRCA2 3773 delTT (F1182X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.3680_3681del (p.Leu1227GlnfsTer5) | BRCA2 3908_3909 del TG (STOP 1231) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.3689del (p.Ser1230LeufsTer9) | BRCA2 3917 del C (STOP 1238) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.3744_3747del (p.Ser1248ArgfsTer10) | BRCA2 3972_3975 del TGAG (STOP 1257) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.3785C>G (p.Ser1262Ter) | BRCA2 4013 C>G (S1262X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.3793T>A (p.Cys1265Ser) | BRCA2 4021 T>A (C1265S) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.3807T>C (p.=) | BRCA2 4035 T>C (V1269V) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.3826G>A (p.Glu1276Lys) | BRCA2 4054 G>A (E1276K) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.3847_3848del (p.Val1283LysfsTer2) | BRCA2 4075_4076 del GT (STOP 1284) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.3887del p.(Asn1296Ilefs*5) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.3887del | P |

BRCA2 c.-39-26G>A | BRCA2 IVS 1-26 G>A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.396T>A (p.Cys132Ter) | BRCA2 624 T>A (C132X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.4003G>T p.(Glu1335*) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.4003G>T | P |

BRCA2 c.4037_4038del (p.Thr1346SerfsTer5) | BRCA2 4265_4266 del CT (STOP 1350) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.4054G>A (p.Asp1352Asn) | BRCA2 4282 G>A (D1352N) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.4068G>A (p.=) | BRCA2 4296 G>A (L1356L) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | PM |

BRCA2 c.4137_4141del (p.Ile1380ArgfsTer21) | BRCA2 4365_4369 del GATTA (STOP 1400) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.4141_4143del (p.Lys1381del) | BRCA2 4369delAAA (p.Lys1381del) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.4146_4148del (p.Glu1382del) | BRCA2 4374_4376 del AGA | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.4163_4164delinsA (p.Thr1388AsnfsTer22) | BRCA2 4391_4392 del CT ins A (STOP 1409) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.4163C>A (p.Thr1388Asn) | BRCA2 4391 C>A (T1388N) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.4169del (p.Leu1390TrpfsTer20) | BRCA2 4397 del T (STOP 1409) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.4189G>A (p.Glu1397Lys) | BRCA2 4417 G>A (E1397K) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.4211C>G p.(Ser1404*) | BRCA2 4439C>G | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.4211C>G | P |

BRCA2 c.425+147G>T | BRCA2 IVS 4+147 G>T | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.425+67A>C | BRCA2 IVS 4+67 A>C | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.4258G>T (p.Asp1420Tyr) | BRCA2 4486 G>T (D1420Y) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | LCS |

BRCA2 c.425G>A (p.Ser142Asn) | BRCA2 653G>A (S142N) | 4 | 1/12/2017 | G>non-G change at last base of the exon with high bioinformatic likelihood to result in splicing aberration with pathogenic consequences. | Sp |

BRCA2 c.426-12_426-8del | BRCA2 IVS 4-12_-8 del GTTTT (del exon 5) | 3 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | DIV |

BRCA2 c.426-89T>C | BRCA2 IVS 4-89 T>C | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.4284_4285insT p.(Gln1429Serfs*9) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.4284_4285insT | P |

BRCA2 c.433_435del (p.Val145del) | BRCA2 661 del GTT | 3 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.4336A>G (p.Ile1446Val) | BRCA2 4564A>G (I1446V) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.4351del p.(Asp1451Ilefs*12) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.4351del | P |

BRCA2 c.4375A>G (p.Asn1459Asp) | BRCA2 4603 A>G (N1459D) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.438A>G (p.=) | BRCA2 666 A>G ( L146L) | 2 | 1/12/2017 | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; (http://priors.hci.utah.edu/PRIORS/)). | PM |

BRCA2 c.4391_4393delinsTT (p.Ser1464PhefsTer7) | BRCA2 4619 delinsTT (STOP 1471) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.4398_4402del (p.Leu1466PhefsTer2) | BRCA2 4626_4630 del 5 (STOP 1467) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.440A>G (p.Gln147Arg) | BRCA2 668 A>G (Q147R) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.4415A>G p.(Lys1472Arg) | | 3 | 4/07/2019 | Insufficient information: LRG_293t1:c.4415A>G | UV |

BRCA2 c.4436G>C (p.Ser1479Thr) | BRCA2 4664G>C (S1479T) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.4440T>G (p.Tyr1480Ter) | BRCA2 4668 T>G (Y1480X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.4478_4481del (p.Glu1493ValfsTer10) | BRCA2 4706_4709 del AAAG (STOP 1502) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.4563A>G (p.=) | BRCA2 4791 A>G (L1521L) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.4584C>T p.(=) | | 2 | 4/07/2019 | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02): LRG_293t1:c.4584C>T | UV |

BRCA2 c.4585G>A (p.Gly1529Arg) | BRCA2 4813 G>A (G1529R) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.4609G>A (p.Glu1537Lys) | BRCA2 4837 G>A (E1537K) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.4624G>A p.(Val1542Met) | | 3 | 4/07/2019 | Insufficient evidence: LRG_293t1:c.4624G>A | UV |

BRCA2 c.4631del p.(Asn1544Thrfs*24) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.4631del | P |

BRCA2 c.4699C>T (p.=) | BRCA2 4927 C>T (L1567L) | 2 | 1/12/2017 | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; (http://priors.hci.utah.edu/PRIORS/)). | PM |

BRCA2 c.470_474del (p.Lys157SerfsTer24) | BRCA2 698_702 del AGTCA (STOP 180) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.4712_4713del (p.Glu1571GlyfsTer3) | BRCA2 4940_4941 del AG (STOP 1573) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.4715C>T p.(Ala1572Val) | | 3 | 4/07/2019 | Insufficient evidence: LRG_293t1:c.4715C>T | UV |

BRCA2 c.4747A>T p.(Ile1583Phe) | | 3 | 4/07/2019 | Insufficient information: LRG_293t1:c.4747A>T | UV |

BRCA2 c.4876_4877del (p.Asn1626SerfsTer12) | BRCA2 5104delAA (STOP 1637) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.4977C>T (p.=) | BRCA2 5205 C>T (S1659S) | 2 | 1/12/2017 | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; (http://priors.hci.utah.edu/PRIORS/)). | LCS |

BRCA2 c.502C>A (p.Pro168Thr) | BRCA2 621 C>A (P168T) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.5033A>C p.(Lys1678Thr) | | 3 | 4/07/2019 | Insufficient evidence: LRG_293t1:c.5033A>C | UV |

BRCA2 c.5070A>C (p.Lys1690Asn) | BRCA2 5298 A>C (K1690N) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.5073dup (p.Trp1692MetfsTer3) | BRCA2 5301_5302 ins A (STOP 1694) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.51_52del (p.Arg18LeufsTer12) | BRCA2 279 delAC (STOP 30) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5130_5133del (p.Tyr1710Ter) | BRCA2 5358_5361 del 4 (STOP 1710) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5141_5144del (p.Tyr1714CysfsTer10) | BRCA2 5369_5372 del ATTT (STOP 1723) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.516+102T>C | BRCA2 6+102 T>C | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | DIV |

BRCA2 c.516+1G>T | BRCA2 IVS 6+1 G>T | 4 | 1/12/2017 | Consensus donor/acceptor site variant allele with high likelihood to result in splicing aberration with pathogenic consequences. | Sp |

BRCA2 c.516+21A>T | BRCA2 IVS 6+21 A>T | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | UV |

BRCA2 c.517-2A>G | BRCA2 IVS 6-2 A>G | 4 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | P |

BRCA2 c.517G>C (p.Gly173SerfsTer19) | c.517G>C | 5 | 1/12/2017 | Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts. | P |

BRCA2 c.518G>T p.(Gly173Val) | | 3 | 4/07/2019 | Insufficient information: LRG_293t1:c.518G>T | UV |

BRCA2 c.5199C>T (p.=) | BRCA2 5427 C>T (S1733S) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.5213_5216del p.(Thr1738Ilefs*2) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.5213_5216del | P |

BRCA2 c.5217_5223del (p.Tyr1739Ter) | BRCA2 5445_5451 del7 (STOP 1739) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5237_5238dup (p.Asn1747LeufsTer31) | BRCA2 5465 insT (STOP 1778) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5278T>G (p.Ser1760Ala) | BRCA2 5506 T>G (S1760A) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.5279C>G (p.Ser1760Ter) | BRCA2 5507 C>G (S1760X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5286T>A (p.Tyr1762Ter) | BRCA2 5514 T>A (Y1762X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5303_5304del p.(Leu1768Argfs*5) | BRCA2 5531delTT | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.5303_5304del | P |

BRCA2 c.5319G>A (p.=) | BRCA2 5547 G>A (E1773E) | 2 | 1/12/2017 | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; (http://priors.hci.utah.edu/PRIORS/)). | PM |

BRCA2 c.5344C>T (p.Gln1782Ter) | BRCA2 5572 C>T (Q1782X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5350_5351del (p.Asn1784HisfsTer2) | BRCA2 5578 delAA (STOP 1785) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5357del p.(Ser1786Ilefs*5) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.5357del | P |

BRCA2 c.538_539dup (p.Ser181PhefsTer5) | BRCA2 767_768 ins AT (STOP185) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.53G>A (p.Arg18His) | BRCA2 281 G>A (R18H) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.550C>T (p.=) | BRCA2 778 C>T (L184L) | 2 | 1/12/2017 | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; (http://priors.hci.utah.edu/PRIORS/)). | PM |

BRCA2 c.5576_5579del (p.Ile1859LysfsTer3) | BRCA2 5804_5807 del TTAA (STOP 1862) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5641_5644del (p.Lys1881GlnfsTer27) | BRCA2 5869_5872 del AAAT (STOP 1907) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5645C>A (p.Ser1882Ter) | BRCA2 5873 C>A (S1882X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5655C>A p.(Cys1885*) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.5655C>A | P |

BRCA2 c.5681dup (p.Tyr1894Ter) | BRCA2 5909 ins A (STOP 1894) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5682C>G (p.Tyr1894Ter) | BRCA2 5910 C>G (Y1894X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5714A>G (p.His1905Arg) | BRCA2 5942 A>G (H1905R) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.5722_5723del (p.Leu1908ArgfsTer2) | BRCA2 5950_5951 del CT (STOP 1909) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.574_575del (p.Met192ValfsTer13) | BRCA2 802_803 del AT (STOP 204) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5744C>T (p.Thr1915Met) | BRCA2 5972 C>T (T1915M) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.5785A>G (p.Ile1929Val) | BRCA2 5904 A>G (I1929V) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | LCS |

BRCA2 c.5796_5797del (p.His1932GlnfsTer12) | BRCA2 6024_6025 del TA (STOP 1943) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5864C>A (p.Ser1955Ter) | BRCA2 6092 C>A (S1955X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5897A>G (p.His1966Arg) | BRCA2 6125 A>G (H1966R) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.5909C>A (p.Ser1970Ter) | BRCA2 6137 C>A (S1970X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.5945G>C (p.Ser1982Thr) | BRCA2 6173 G>C (S1982T) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.5946del (p.Ser1982ArgfsTer22) | BRCA2 6174 del T (STOP 2003) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6010G>A (p.Glu2004Lys) | BRCA2 6238 G>A (E2004K) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.6078_6079del (p.Glu2028ArgfsTer20) | BRCA2 6306_6307delAA (STOP 2047) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6079dup (p.Arg2027LysfsTer22) | BRCA2 6307_6308 ins A (STOP 2048) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6100C>T (p.Arg2034Cys) | BRCA2 6328 C>T (R2034C) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | LCS |

BRCA2 c.6172T>A (p.Phe2058Ile) | BRCA2 6400 T>A (F2058I) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.620C>G (p.Thr207Ser) | BRCA2 848 C>G (T207S) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.6240dup (p.Glu2081ArgfsTer4) | BRCA2 6468_6469 ins A (STOP 2084) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6275_6276del (p.Leu2092ProfsTer7) | BRCA2 6503_6504 del TT (STOP 2098) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.631+183T>A | BRCA2 IVS 7+183 T>A | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.631+2T>G | BRCA2 IVS7+2 T>G | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). Frequency >1% in an outbred sampleset | P |

BRCA2 c.631G>C (p.Val211Leu) | BRCA2 859 G>C (V211L ) | 4 | 1/12/2017 | G>non-G change at last base of the exon with high bioinformatic likelihood to result in splicing aberration with pathogenic consequences. | P |

BRCA2 c.632-1G>A | BRCA2 IVS 7-1 G>A | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | P |

BRCA2 c.6322C>T (p.Arg2108Cys) | BRCA2 6550 C>T (R2108C) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.6323G>A (p.Arg2108His) | BRCA2 6551G>A (R2108H) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.632-69T>C | BRCA2 IVS 7-69 T>C | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA2 c.6331_6332del (p.Lys2111GlufsTer17) | BRCA2 6559_6560 del AA (STOP 2127) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6405_6409del (p.Asn2135LysfsTer3) | BRCA2 6633_6637 del CTTAA (STOP 2137) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6450dup (p.Val2151SerfsTer25) | BRCA2 6569 dup (STOP 1240) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6468_6469del (p.Gln2157IlefsTer18) | BRCA2 6696_6697 del TC (STOP 2174) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6475C>T (p.Gln2159Ter) | BRCA2 6594 C>T (Q2159X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6486_6489del (p.Lys2162AsnfsTer5) | BRCA2 6714_6717 del ACAA (STOP 2166) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6513G>C (p.=) | BRCA2 6741 C>G (V2171V) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.6535_6536insA (p.Val2179AspfsTer10) | BRCA2 6763_6764 ins A (STOP 2188) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.658_659del (p.Val220IlefsTer4) | BRCA2 886_887delGT (STOP 223) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6588_6589del (p.Lys2196AsnfsTer2) | BRCA2 6815_6816delAA | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6626_6627del (p.Ile2209ArgfsTer15) | BRCA2 6854_6855 del TA (STOP 2223) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6641dup (p.Tyr2215LeufsTer10) | BRCA2 6869 ins C (STOP 2223) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6675A>G (p.=) | BRCA2 6903 A>G (T2225T) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | PM |

BRCA2 c.6696del (p.Ala2233LeufsTer8) | BRCA2 6924 del A | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6698C>A (p.Ala2233Asp) | BRCA2 6926C>A (A2233D) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.67+62T>G | BRCA2 IVS 2+62 T>G | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | DIV |

BRCA2 c.67+82C>G | BRCA2 IVS 2+82 C>G | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | DIV |

BRCA2 c.6714T>G p.(Asp2238Glu) | | 3 | 4/07/2019 | Insufficient information: LRG_293t1:c.6714T>G | UV |

BRCA2 c.6743_6755del (p.His2248LeufsTer28) | BRCA2 6971_6983 del ATGCCACACATTC (STOP 2275) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.68_316del p.(Asp23_Leu105del) | | 5 | 4/07/2019 | Deletion of critical functional domain: LRG_293t1:c.68_316del | P |

BRCA2 c.681+1G>A | BRCA2 IVS 8+1 G>A | 4 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | Sp |

BRCA2 c.681+56C>T | BRCA2 IVS 8+56 C>T | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.6821G>T (p.Gly2274Val) | BRCA2 7049 G>T (G2274V) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). Frequency >1% in an outbred sampleset | LCS |

BRCA2 c.682-32A>G | BRCA2 IVS 8-32 A>G | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA2 c.6825del (p.Glu2275AspfsTer5) | BRCA2 7053 delG (STOP 2280) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6841+191C>A | BRCA2 IVS 11+191 C>A | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.6841+80_6841+83del | BRCA2 IVS 11+80 del TTAA | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | DIV |

BRCA2 c.68-4dup | | 3 | 4/07/2019 | Insufficient information: LRG_293t1:c.68-4dup | UV |

BRCA2 c.68-7del | | 2 | 4/07/2019 | Multifactorial likelihood analysis: LRG_293t1:c.68-7del | UV |

BRCA2 c.68-7T>A | BRCA2 IVS 2-7 T>A | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.6938-120T>C | BRCA2 IVS 12-120T>C | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | DIV |

BRCA2 c.6938-346G>A | BRCA2 12-346G>A | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.6944_6947del (p.Ile2315LysfsTer12) | BRCA2 7172_7175 del 4 (STOP 2326) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6952C>T (p.Arg2318Ter) | BRCA2 7180 C>T (R2318X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.6953G>A (p.Arg2318Gln) | BRCA2 7181 G>A (R2318Q) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.6982G>A (p.Glu2328Lys) | BRCA2 7210G>A (E2328K) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.6996_7004delins20 (p.Cys2332fs) | BRCA2 7224_7232 del 9 ins 20 | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7007+113C>T | | 1 | 4/07/2019 | Variant allele has low bioinformatic likelihood to encode a missense alteration affecting protein function (Missense prior probability 0.02), | LCS |

BRCA2 c.7007+136C>A | BRCA2 IVS 13+136 C>A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA2 c.7007+5G>A | | 3 | 4/07/2019 | Currently class 3 by multifac, and no known published splicing assay.: LRG_293t1:c.7007+5G>A | UV |

BRCA2 c.7007G>A (p.Arg2336His) | BRCA2 7235G>A (R2336H) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA2 c.7008-?_7805+?del | BRCA2 del exons 14_16 | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LGR |

BRCA2 c.7008-1G>A | | 5 | 4/07/2019 | Multifactorial likelihood analysis: LRG_293t1:c.7008-1G>A | P |

BRCA2 c.7008-2A>T | | 5 | 4/07/2019 | Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts. | P |

BRCA2 c.7008-62A>G | BRCA2 IVS 13-62 A>G | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | DIV |

BRCA2 c.7052C>G p.(Ala2351Gly) | | 1 | 4/07/2019 | Variant allele has low bioinformatic likelihood to encode a missense alteration affecting protein function (Missense prior probability 0.02), | LCS |

BRCA2 c.7061A>C (p.Gln2354Pro) | BRCA2 7289A>C (Q2354P) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.7069_7070del (p.Leu2357ValfsTer2) | BRCA2 7297_7298 del CT (STOP 2358) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7102T>G p.(Leu2368Val) | | 1 | 4/07/2019 | Variant allele has low bioinformatic likelihood to encode a missense alteration affecting protein function (Missense prior probability 0.02), | LCS |

BRCA2 c.7133C>G (p.Ser2378Ter) | BRCA2 7361 C>G (S2378X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.72_85delins TTAAATAGAT | BRCA2 300del14ins11 (L24_L29delinsFLNRF) | 5 | 14/03/2019 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | |

BRCA2 c.7212_7224del p.(Lys2404Asnfs*61) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.7212_7224del | P |

BRCA2 c.7242A>G (p.=) | BRCA2 7470 A>G (S2414S) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.7336A>G (p.Lys2446Glu) | BRCA2 7564 A>G (K2446E) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.7360del (p.Ile2454PhefsTer15) | BRCA2 7588 del A (STOP 2468) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7397C>T (p.Ala2466Val) | BRCA2 7625 C>T (A2466V) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.7415A>C (p.Lys2472Thr) | BRCA2 7643 A>C (K2472T) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.7419_7420del (p.Cys2473Ter) | BRCA2 7647_7648 delTG (STOP 2473) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7435+53C>T | BRCA2 IVS 14+53 C>T | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.7436-1G>T | BRCA2 IVS 14-1 G>T | 4 | 1/12/2017 | Consensus donor/acceptor site variant allele with high likelihood to result in splicing aberration with pathogenic consequences. | Sp |

BRCA2 c.7480C>T (p.Arg2494Ter) | BRCA2 7708 C>T (R2494X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7521A>G (p.=) | BRCA2 7749 A>G (P2507P) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.7534C>T (p.Leu2512Phe) | BRCA2 7762 C>T (L2512F) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.7544C>T (p.Thr2515Ile) | BRCA2 7772 C>T (T2515I) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.755_758del (p.Asp252ValfsTer24) | BRCA2 983_986 del ACAG (STOP 275) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7558C>T (p.Arg2520Ter) | BRCA2 7786 C>T (R2520X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7618-309T>C | BRCA2 IVS 15-309 T>C | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA2 c.7667dup (p.Asn2556LysfsTer10) | BRCA2 7895_7896 ins A (STOP 2565) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.767del (p.Thr256LysfsTer21) | BRCA2 995 del C (STOP 276) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7694A>G p.(Glu2565Gly) | | 3 | 4/07/2019 | Insufficient information: LRG_293t1:c.7694A>G | UV |

BRCA2 c.771_775del p.(Asn257Lysfs*17) | BRCA2 995del5 | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.771_775del | P |

BRCA2 c.7757G>A (p.Trp2586Ter) | BRCA2 7985 G>A (W2586X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7762_7764delinsTT (p.Ile2588PhefsTer60) | BRCA2 7990_7992 del ATA ins TT (STOP 2647) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.778_779del (p.Glu260SerfsTer15) | BRCA2 1006 delGA (STOP 275) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7806-14T>C | BRCA2 IVS 16-14 T>C | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.7806-2_7806-1dup | BRCA2 IVS 16-2 ins AG | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA2 c.7806-40A>G | BRCA2 IVS 16-40 A>G | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | DIV |

BRCA2 c.7828G>A (p.Val2610Met) | BRCA2 8056 G>A (V2610M) | 3 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.7878G>A p.(Trp2626*) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.7878G>A | P |

BRCA2 c.7884dup (p.Trp2629MetfsTer12) | BRCA2 8112_8113 ins A (STOP 2640) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.793+53del | | 3 | 4/07/2019 | Deep intronic variant unlikely to alter splicing - possibly Class 2 after revised rules.: LRG_293t1:c.793+53del | UV |

BRCA2 c.7933A>T p.(Arg2645*) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.7933A>T | P |

BRCA2 c.7934del (p.Arg2645AsnfsTer3) | BRCA2 8162del G (STOP 2647) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7940_7941insC (p.Ser2648LysfsTer14) | BRCA2 8168_8169 ins C (STOP 2661) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7976G>C (p.Arg2659Thr) | BRCA2 8204 G>C (R2659T) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.7977-1G>C | BRCA2 IVS 17-1 G>C | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | P |

BRCA2 c.7980T>G (p.Tyr2660Ter) | BRCA2 8208 T>G (Y2660X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.7988A>T (p.Glu2663Val) | BRCA2 8216 A>T (E2663V) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA2 c.7994A>G (p.Asp2665Gly) | BRCA2 8222 A>G (D2665G) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | LCS |

BRCA2 c.8009C>T (p.Ser2670Leu) | BRCA2 8237 C>T (S2670L) | 4 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.8084C>G (p.Ser2695Ter) | BRCA2 8312 C>G (S2695X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.8113A>G, p.Ser2705Gly | | 3 | 1/04/2019 | | |

BRCA2 c.8149G>T (p.Ala2717Ser) | BRCA2 8377 G>T (A2717S) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.8167G>C (p.Asp2723His) | BRCA2 8395 G>C (D2723H) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA2 c.8168A>C (p.Asp2723Ala) | BRCA2 8396 A>C (D2723A) | 5 | 9/03/2018 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 Pathogenic based on posterior probability = 0.999965569. | UV |

BRCA2 c.8168A>G (p.Asp2723Gly) | BRCA2 8396 A>G (D2723G ) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA2 c.8182G>A (p.Val2728Ile) | BRCA2 8410 G>A (V2728I) | 1 | 1/12/2017 | Variant allele has low bioinformatic likelihood to encode a non-functional protein and variant frequency is inconsistent with that of a pathogenic allele. | LCS |

BRCA2 c.8215G>A (p.Val2739Ile) | BRCA2 8443 G>A (V2739I) | 3 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.8243G>A p.(Gly2748Asp) | | 5 | 4/07/2019 | Multifactorial likelihood analysis: LRG_293t1:c.8243G>A | P |

BRCA2 c.8247_8248del (p.Lys2750AspfsTer13) | BRCA2 8475 _8476 del GA (STOP 2762) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.8297del (p.Thr2766AsnfsTer11) | BRCA2 8525 del C (STOP 2776) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.8308G>A (p.Ala2770Thr) | BRCA2 8536 G>A (A2770T) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.8332-?_8632+?del | BRCA2 del exons 19_20 | 5 | 1/12/2017 | Copy number deletion variant allele predicted to encode a non-functional protein. | LGR |

BRCA2 c.8363G>A p.(Trp2788*) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.8363G>A | P |

BRCA2 c.8486A>G (p.Gln2829Arg) | BRCA2 8714 A>G (del exon 19) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA2 c.8487+1G>A | BRCA2 IVS 19+1 G>A | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA2 c.8537_8538del p.(Glu2846Glyfs*22) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.8537_8538del | P |

BRCA2 c.8561dup (p.Tyr2854Ter) | BRCA2 8789 ins A (STOP 2854) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.8567A>C (p.Glu2856Ala) | BRCA2 8795 A>C (E2856A) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.8573A>G (p.Gln2858Arg) | BRCA2 8801 A>G (Q2858R) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.8575del (p.Gln2859LysfsTer4) | BRCA2 8803 del C (STOP 2862) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.8585dup (p.Glu2863ArgfsTer6) | BRCA2 8813_8814 ins T (STOP 2868) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.8588_8590dup (p.Glu2863dup) | BRCA2 8816 ins AAG | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.8620G>T (p.Glu2874Ter) | BRCA2 8848 G>T (STOP 2874) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.8632+1G>A | BRCA2 IVS 20+1 G>A | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | P |

BRCA2 c.8632+41G>A | BRCA2 IVS 20+41 G>A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA2 c.8633-24_8634del (p.?) | BRCA2 IVS 20-24 del26 | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.865A>C (p.Asn289His) | BRCA2 1093 A>C (N289H) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.865A>G (p.Asn289Asp) | BRCA2 1093 A>G (N289D) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.8704G>A (p.Ala2902Thr) | BRCA2 8932 G>A (A2902T) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.8734G>A (p.Ala2912Thr) | BRCA2 8962 G>A (A2912T) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.8739C>G p.(Asp2913Glu) | | 3 | 4/07/2019 | Insufficient evidence: LRG_293t1:c.8739C>G | UV |

BRCA2 c.8754+15G>C | BRCA2 IVS 21+15 G>C | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.8754+75A>G | BRCA2 IVS 21+75 A>G | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | DIV |

BRCA2 c.8755-?_9256+?del p.(Gly2919Aspfs*18) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.8755-?_9256+?del | P |

BRCA2 c.8755-66T>C | BRCA2 IVS 21-66 T>C | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.8839G>A (p.Glu2947Lys) | BRCA2 9067 G>A (E2947K) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.8850G>T (p.Lys2950Asn) | BRCA2 9078 G>T (K2950N) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | LCS |

BRCA2 c.8851G>A (p.Ala2951Thr) | BRCA2 9079 G>A (A2951T) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | LCS |

BRCA2 c.8878C>T (p.Gln2960Ter) | BRCA2 9106 C>T (Q2960X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.8902_8913delinsTCCC (p.Thr2968SerfsTer47) | BRCA2 9130 del12insTCCC (STOP 3015) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.8904del (p.Val2969CysfsTer7) | BRCA2 9132 del C (STOP 2975) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.8905G>A (p.Val2969Met) | BRCA2 9133 G>A (V2969M) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.8914del p.(Leu2972Cysfs*4) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.8914del | P |

BRCA2 c.8917C>T (p.Arg2973Cys) | BRCA2 9145 C>T (R2973C) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.8933C>A (p.Ser2978Ter) | BRCA2 9161 C>A (S2978X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.8953+80G>A | | 3 | 4/07/2019 | Deep intronic variant unlikely to alter splicing - possibly Class 2 after revised rules.: LRG_293t1:c.8953+80G>A | UV |

BRCA2 c.8954-5_8954-2del | | 3 | 4/07/2019 | Intronic variant where deletion improves the strength of acceptor site (MaxEntScan prediction).: LRG_293t1:c.8954-5_8954-2del | UV |

BRCA2 c.9038C>T (p.Thr3013Ile) | BRCA2 9266 C>T (T3013I) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.906del (p.Ser303LeufsTer21) | BRCA2 1134 del C (STOP 323) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.9089C>T (p.Thr3030Ile) | BRCA2 9317 C>T (T3030I) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.9097dup (p.Thr3033AsnfsTer11) | BRCA2 9325_9326 ins A (STOP 3043) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.9104A>G (p.Tyr3035Cys) | BRCA2 9332 A>G (Y3035C) | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | UV |

BRCA2 c.9109C>T (p.Gln3037Ter) | BRCA2 9337 C>T (Q3037X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.9116C>T (p.Pro3039Leu) | BRCA2 9344 C>T (P3039L) | 3 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.9117+1G>A | BRCA2 IVS 23+1 G>A | 4 | 1/12/2017 | Consensus donor/acceptor site variant allele with high likelihood to result in splicing aberration with pathogenic consequences. | Sp |

BRCA2 c.9117G>A (p.Val2985GlyfsTer4fs) | BRCA2 9345 G>A (splice variant) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008); Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcri | P |

BRCA2 c.9154C>T (p.Arg3052Trp) | BRCA2 9382 C>T (R3052W) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | P |

BRCA2 c.9196C>T (p.Gln3066Ter) | BRCA2 9424 C>T (Q3066X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.9218A>G p.(Asp3073Gly) | | 3 | 4/07/2019 | Insufficient evidence: LRG_293t1:c.9218A>G | UV |

BRCA2 c.9226G>A (p.Gly3076Arg) | | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | |

BRCA2 c.9253dup p.(Thr3085Asnfs*26) | | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.9253dup | P |

BRCA2 c.9257-?del_10257*?del | BRCA2 del exons 25_27 | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LGR |

BRCA2 c.9257-16T>C | BRCA2 IVS 24-16 T>C | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.9257-1G>A | BRCA2 IVS 24-1 G>A | 4 | 1/12/2017 | Consensus donor/acceptor site variant allele with high likelihood to result in splicing aberration with pathogenic consequences. | Sp |

BRCA2 c.9257-83G>A | BRCA2 IVS 24-83 G>A | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2 c.9269dup (p.Val3091ArgfsTer20) | BRCA2 9497_9498 ins T (STOP 3110) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.9292T>C ((p.Tyr3098His) | BRCA2 9520 T>C (Y3098H) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.9294C>G (p.Tyr3098Ter) | BRCA2 9522 C>G (Y3098X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.934T>G | | 3 | 4/07/2019 | Insufficient information: LRG_293t1:c.934T>G | UV |

BRCA2 c.9364G>A (p.Ala3122Thr) | BRCA2 9592 G>A (A3122T) | 2 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.9382C>T (p.Arg3128Ter) | BRCA2 9610 C>T (R3128X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.9403del (p.Leu3135PhefsTer28) | BRCA2 9631 del C (STOP 3162) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.9501+3A>T | BRCA2 IVS 25+3 A>T | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | UV |

BRCA2 c.9502-12T>G | BRCA2 IVS 25-12 T>G | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | PM |

BRCA2 c.9649-19G>A | BRCA2 IVS 26-19 G>A | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | DIV |

BRCA2 c.9649-20C>T | BRCA2 IVS 26-20 C>T | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | PM |

BRCA2 c.9649-65_9649-62del | BRCA2 IVS 26-65del4 | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | DIV |

BRCA2 c.9663_9664del p.(Asn3221Lysfs*2) | BRCA2 LRG_293t1:c.9663_9664del | 5 | 4/07/2019 | Truncating variant: LRG_293t1:c.9663_9664del | P |

BRCA2 c.978_983del p.(Lys327_Thr328del) | | 3 | 4/07/2019 | In-frame deletion in exon 10, no other evidence: LRG_293t1:c.978_983del | UV |

BRCA2 c.978C>A (p.Ser326Arg) | BRCA2 1097 C>A (S326R) | 1 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). | LCS |

BRCA2 c.9924C>G (p.Tyr3308Ter) | BRCA2 10152 C>G (Y3308X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

BRCA2 c.9976A>T (p.Lys3326Ter) | BRCA2 10204 A>T (K3326X) | 1 | 1/12/2017 | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. | PM |

BRCA2c.9226G>A (p.Gly3076Arg) | BRCA2 9454G>A (G3076R) | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | UV |

CHEK2 c.1100del (p.Thr367MetfsTer15) | CHEK2 1100 del C | 5 | 1/12/2017 | Associated with modest risk of ER-positive disease (OR 2.6) based on large-scale breast cancer case-control analysis. | LCS |

MSH2 c.1387-?_1759+?dup | MSH2 dup exons 9_11 | 3 | 1/12/2017 | Duplication, breakpoints not defined | P |

MSH2 c.1777C>T (p.Gln593Ter) | MSH2 c.1777 C>T p.Gln593X | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

MSH6 c.3188T>G (p.Leu1063Arg) | N/A | 5 | 1/12/2017 | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) | |

P53 C.673-1G>A | | 5 | 1/04/2019 | null variant (PVS1), absent from controls (PM2_supporting), found in at least one proband meeting Chompret criteria (PS4_supporting) | |

PALB2 c.1010T>C (p.Leu337Ser) | N/A | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | |

PALB2 c.1431C>T (p.=) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.1470C>T (p.=) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.1475G>T (p.Gly492Val) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.1572A>G (p.=) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.1610C>T (p.Ser537Leu) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.1676A>G (p.Gln559Arg) | N/A | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | |

PALB2 c.1684+39_1684+41dup | N/A | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | |

PALB2 c.1685-2A>G | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.1935G>A (p.=) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.1947dup (p.Glu650ArgfsTer13) | N/A | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | |

PALB2 c.196C>T (p.Gln66Ter) | N/A | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | |

PALB2 c.2014G>C (p.Glu672Gln) | N/A | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | |

PALB2 c.212-58A>C | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.2235del (p.Ala746HisfsTer18) | N/A | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | |

PALB2 c.2469C>A (p.=) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.2590C>T (p.Pro864Ser) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.2674G>A (p.Glu892Lys) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.2816T>G (p.Leu939Trp) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.2823C>A (p.=) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.2834+12C>T | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.2982dup (p.Ala995CysfsTer16) | N/A | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | |

PALB2 c.2993G>A (p.Gly998Glu) | N/A | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | |

PALB2 c.3113G>A (p.Trp1038Ter) | N/A | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

PALB2 c.3300T>G (p.=) | N/A | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | |

PALB2 c.3321G>A (p.=) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.-47G>A | N/A | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | |

PALB2 c.656A>G (p.Asp219Gly) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.90G>T (p.Lys30Asn) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.94C>G (p.Leu32Val) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PALB2 c.956C>A (p.Ser319Tyr) | N/A | 3 | 1/12/2017 | Insufficient evidence to determine clinical significance | |

PTEN c.217G>T (p.Glu73Ter) | PTEN 217 G>T (E73X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

PTEN c.302_304delinsCC (p.Ile101ThrfsTer12) | N/A | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

TP53 c.1009C>T (p.Arg337Cys) | | 4 | 1/12/2017 | Multiple points of evidence suggest association with clinical phenotype. | P |

TP53 c.1163A>C (p.Glu388Ala) | | 2 | 1/12/2017 | Likely not pathogenic based on bioinformatic and functional evidence | |

TP53 c.215C>G (p.Pro72Arg) | p53 c.215 | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | |

TP53 c.-28-?_559+?dup | | 3 | 1/12/2017 | Insufficient evidence to classify using ACMG - but displays features indicative of pathogenicity | |

TP53 c.-28-?_672+?dup | P53 dup exons 2_6 | 3 | 1/12/2017 | Insufficient evidence to classify using ACMG - but displays features indicative of pathogenicity | LGR |

TP53 c.378C>A (p.Tyr126X) | P53 378 C>A (Y126X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

TP53 c.393_395delCAA (p.Asn131del) | P53 c.393_395delCAA (p.Asn131del) in exon 5 | 3 | 1/12/2017 | Insufficient evidence to classify | |

TP53 c.424C>A (p.Pro142Thr) | p53 424 C>A (P142T) | 3 | 1/12/2017 | Insufficient evidence to classify | |

TP53 c.424C>T (p.Pro142Thr) | P53 g.13103 C>T (P142T) | 3 | 1/12/2017 | Insufficient evidence to classify | UV |

TP53 c.474C>T (p.=) | P53 g.13147 C>T (R158R) | 2 | 1/12/2017 | Silent variant, found in controls | SV |

TP53 c.523C>T (p.Arg175Cys) | | 3 | 1/12/2017 | Insufficient evidence to classify | |

TP53 c.524G>A (p.Arg175His) | P53 524 G>A (R175H) | 5 | 1/12/2017 | Known pathogenic hotspot | P |

TP53 c.560G>A (p.Gly187Asp) | | 3 | 1/12/2017 | Insufficient evidence to classify | |

TP53 c.584T>C (p.Ile195Thr) | P53 c.584T>C (p.Ile195Thr) | 4 | 1/12/2017 | Multiple points of evidence suggest loss of function and association with clinical phenotype. | P |

TP53 c.586C>T (p.Arg196X) | P53 586 C>T (R196X) | 5 | 1/12/2017 | Variant allele predicted to encode a truncated non-functional protein. | P |

TP53 c.604C>T (p.Arg202Cys) | | 3 | 1/12/2017 | Insufficient evidence to classify | |

TP53 c.613T>G (p.Tyr205Asp) | | 3 | 1/12/2017 | Insufficient evidence to classify | |

TP53 c.639A>G (p.=) | P53 g.13399 A>G (R213R) | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | PM |

TP53 c.647T>G (p.Val216Gly) | P53 647 T>G (V216G) | 3 | 1/12/2017 | Insufficient evidence to classify | UV |

TP53 c.659A>G (p.Tyr220Cys) | | 4 | 14/03/2019 | Multiple points of evidence suggest loss of function and association with clinical phenotype. | |

TP53 c.673-16C>T | P53 IVS6-16 C>T | 3 | 1/12/2017 | Insufficient evidence to classify | UV |

TP53 c.673-4C>T | P53 IVS6-4 C>T | 3 | 1/12/2017 | Insufficient evidence to classify | UV |

TP53 c.725G>A (p.Cys242Tyr) | p53 725 G>A (C242Y) | 4 | 1/12/2017 | Multiple points of evidence suggest association with clinical phenotype. | P |

TP53 c.736A>G (p.Met246Val) | P53 g.14063 A>G (M246V) | 4 | 1/12/2017 | Multiple points of evidence suggest loss of function and association with clinical phenotype. | P |

TP53 c.742C>T (p.Arg248Trp) | P53 g.14069 C>T (R248W) | 5 | 1/12/2017 | Multiple points of evidence suggest loss of function and association with clinical phenotype. Known pathogenic hotspot. | P |

TP53 c.743G>A (p.Arg248Gln) | P53 g.14070 G>A (R248Q) | 5 | 1/12/2017 | Multiple points of evidence suggest loss of function and association with clinical phenotype. Known pathogenic hotspot. | P |

TP53 c.782+72C>T | P53 IVS7+72 C>T | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | PM |

TP53 c.782+92T>G | P53 IVS7+92 T>G | 1 | 1/12/2017 | Not pathogenic based on frequency >1% in an outbred sampleset. | PM |

TP53 c.784G>A (p.Gly262Ser) | | 3 | 1/12/2017 | Insufficient evidence to classify | |