Classification of variants found in kConFab families

Last Update: 4 Apr, 2018

The Family ID numbers shown on this table are deidentified for ethics reasons. kConfab members can view the password protected identified data.
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Classification Key: (Classifications are determined as described on the Classification of Variants Page.)

1: Not pathogenic or of little clinical significance
2: Likely not pathogenic or of little clinical significance
3: Uncertain
4: Likely pathogenic
5: Pathogenic

Limit by effect:


HGVSBICClassLast ClassifiedRationaleHistorical Class
ATM c.1066-6T>GATM IVS 10-6 T>G11/12/2017Not pathogenic based on large-scale breast cancer case-control analysisLCS
ATM c.4258C>T (p.Leu1420Phe)ATM 4258 C>T (L1420F)11/12/2017Not pathogenic based on frequency >1% in an outbred sampleset.PM
ATM c.7271T>G (p.Val2424Gly)ATM 7271 T>G (V2424G)51/12/2017The 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)31/12/2017Insufficient 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.*1139G>TBRCA1 g.84198 G>T (3' UTR)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA1 c.*1287C>TBRCA1 g.84346 C>T (3' UTR)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.*1332G>ABRCA1 g.84391 G>A (3' UTR)11/12/2017Variant 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>TBRCA1 g.83481 G>T (3' UTR)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.1018del (p.Val340Ter)BRCA1 1137 del G (STOP 340)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.1036C>T (p.Pro346Ser)BRCA1 1155 C>T (P346S)11/12/2017Variant 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)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.1102G>T (p.Glu368Ter)BRCA1 1221 G>T (E368X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.1106_1108del (p.Asp369del)BRCA1 1224_1226 del GAT (D369del)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.1175_1214del (p.Leu392GlnfsTer5)BRCA1 1294_1333 del 40 (STOP 397)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.122A>G (p.His41Arg)BRCA1 241 A>G (H41R)51/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.131G>T (p.Cys44Phe)BRCA1 250 G>T (C44F)51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008)P
BRCA1 c.135-1G>T (p.Phe46_Arg71del)BRCA1 IVS 3-1 G>T51/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.135-53T>CBRCA1 IVS 4-53 T>C31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.1423A>T (p.Ser475Cys)BRCA1 1542 A>T (S475C)21/12/2017IARC 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)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.1486C>T (p.Arg496Cys)BRCA1 1605 C>T (R496C)11/12/2017IARC 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)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).PM
BRCA1 c.1504_1508del (p.Leu502AlafsTer2)BRCA1 1623_1627 del TTAAA (STOP 505)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.1621C>T (p.Gln541Ter)BRCA1 1740 C>T (Q541X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.1648A>C (p.Asn550His)BRCA1 1767 A>C (N550H)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.178C>T (p.Gln60Ter)BRCA1 297 C>T (Q60X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.181T>G (p.Cys61Gly)BRCA1 300 T>G (C61G)51/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.1881_1882insCC (p.Ser628ProfsTer5)BRCA1 2000 insCC (STOP 633)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.188T>A (p.Leu63Ter)BRCA1 307 T>A (L63X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.-19-115T>CBRCA1 IVS 1-115 T>C11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.-19-134T>CBRCA1 IVS1-134T>C31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.1916T>A (p.Leu639Ter)BRCA1 2035 T>A (L639X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.-19-235G>ABRCA1 IVS1-235A>G31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.1953_1956del (p.Lys653SerfsTer47)BRCA1 2072_2075 del GAAA (STOP 700)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.1961del (p.Lys654SerfsTer47)BRCA1 2080 del A (STOP 700)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.1961dup (p.Tyr655ValfsTer18)BRCA1 2080_2081 ins A (STOP 672)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.1983_1991del (p.His662_Arg664del)BRCA1 2099_2107 del 9 (H662_R664del)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA1 c.-20+101C>GBRCA1 IVS 1+101 C>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.2019del (p.Glu673AspfsTer28)BRCA1 2138 del A (STOP 700)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2071del (p.Arg691AspfsTer10)BRCA1 2190 del A (STOP 700)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2074del (p.His692MetfsTer9)BRCA1 2193 del C (STOP 700)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2077G>A (p.Asp693Asn)BRCA1 2196 G>A (D693N)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.2082C>T (p.=)BRCA1 2201 C>T (S694S)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.212+1G>TBRCA1 IVS 5+1 G>T51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008)Sp
BRCA1 c.213-11T>G (p.Arg71SerfsTer10)BRCA1 IVS 5-11 T>G (STOP 75)51/12/2017Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts.P
BRCA1 c.213-161A>GBRCA1 IVS 5-161 A>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.2180C>T (p.Pro727Leu)BRCA1 2299 C>T (P727L)11/12/2017IARC 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 del1451/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2263del (p.Glu755LysfsTer10)BRCA1 2382 del G (STOP 764)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2269del (p.Val757PhefsTer8)BRCA1 2388 del G (STOP 764)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2311T>C (p.=)BRCA1 2430 T>C (L771L)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.2315T>C (p.Val772Ala)BRCA1 2434 T>C (V772A)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2389G>T (p.Glu797Ter)BRCA1 2508 G>T (E797X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2411_2412del (p.Gln804LeufsTer5)BRCA1 2530_2531 del AG (STOP 808)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2412G>C (p.Gln804His)BRCA1 2531 G>C (Q804H)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2475del (p.Asp825GlufsTer21)BRCA1 2594 del C (STOP 845)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2477C>A (p.Thr826Lys)BRCA1 2596 C>A (T826K)11/12/2017IARC 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)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2562_2563insGC (p.Gln855AlafsTer39)BRCA1 2681_2682 ins GC (STOP 893)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2566T>C (p.Tyr856His)BRCA1 2685 T>C (Y856H)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.2596C>T (p.Arg866Cys)BRCA1 2715 C>T (R866C)11/12/2017IARC 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)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.2641G>T (p.Glu881Ter)BRCA1 2760G>T (E881X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2657_2658del (p.Ser886CysfsTer16)BRCA1 2776_2777 del CT (STOP 901)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2679_2682del (p.Lys893AsnfsTer106)BRCA1 2798_2801 del GAAA (STOP 998)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2681_2682del (p.Lys894ThrfsTer8)BRCA1 2800_2801 del AA (STOP 901)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2710G>T (p.Glu904Ter)BRCA1 2829 G>T (E904X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2713C>T (p.Gln905Ter)BRCA1 2832 C>T (Q905X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2759T>C (p.Val920Ala)BRCA1 2878 T>C (V920A)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2805dup (p.Asp936ArgfsTer2)BRCA1 2921 ins A (STOP 937)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2834_2836delinsC (p.Ser945ThrfsTer6)BRCA1 2953 del GTA ins C (STOP 950)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2866_2870del (p.Ser956ValfsTer13)BRCA1 2982_2986 del TCATC (STOP 968)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2887del (p.Thr963LeufsTer37)BRCA1 3006 del A (STOP 999)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.288C>T (p.=)BRCA1 407 C>T (D96D)21/12/2017IARC 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)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2963C>A (p.Ser988Ter)BRCA1 3082 C>A (S988X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.2999del (p.Glu1000GlyfsTer24)BRCA1 3118 del A (STOP 1023)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.301+26A>CBRCA1 IVS 6+26 C>A31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA1 c.301+27C>ABRCA1 IVS 6+27 A>C31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA1 c.301+32A>GBRCA1 IVS 6+32 A>G31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.302-102A>GBRCA1 IVS 6-102 A>G31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.302-2delABRCA1 IVS 6-2 del A51/12/2017IARC 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)11/12/2017IARC 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)11/12/2017IARC 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)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.3119G>A (p.Ser1040Asn)BRCA1 3238 G>A (S1040N)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.3155del (p.Asn1052MetfsTer10)BRCA1 3274 del A (STOP 1061)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3194_3195insG (p.Asp1065GlufsTer2)BRCA1 3313_3314 ins G (STOP 1066)01/12/2017Variant allele predicted to rescue truncation by splicing.P
BRCA1 c.3228_3229del (p.Gly1077AlafsTer8)BRCA1 3347_3348 del AG (STOP 1084)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3239T>A (p.Leu1080Ter)BRCA1 3358 T>A (L1080X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3254_3255dup (p.Leu1086AspfsTer2)BRCA1 3374_3375 ins GA (STOP 1087)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3256_3257insGA (p.Leu1086Ter)BRCA1 3375_3376 ins GA (STOP 1087)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3296C>T (p.Pro1099Leu)BRCA1 3415 C>T (P1099L)11/12/2017IARC 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)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3339T>G (p.Tyr1113Ter)BRCA1 3458 T>G (Y1113X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3397_3398del (p.Leu1133ArgfsTer7)BRCA1 3516_3517 del TT (STOP 1139)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3400G>T (p.Glu1134Ter)BRCA1 3519 G>T (E1134X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3403C>T (p.Gln1135Ter)BRCA1 3522 C>T (Q1135X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3463G>C (p.Asp1155His)BRCA1 3582 G>C (D1155H)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.34C>T (p.Gln12Ter)BRCA1 153 C>T (Q12X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3548A>G (p.Lys1183Arg)BRCA1 3667 A>G (K1183R)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.3598C>T (p.Gln1200Ter)BRCA1 3717 C>T (Q1200X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3607C>T (p.Arg1203Ter)BRCA1 3726 C>T (R1203X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3627dup (p.Glu1210ArgfsTer9)BRCA1 3746 ins A (STOP 1218)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3668_3671dup (p.Cys1225SerfsTer10)BRCA1 3790_3791 ins TTCC (STOP 1234)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3700_3704del (p.Val1234GlnfsTer8)BRCA1 3819_3823 del GTAAA (STOP 1242)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3706_3707del (p.Asn1236TyrfsTer7)BRCA1 3825_3826 del AA (STOP 1242)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3708T>G (p.Asn1236Lys)BRCA1 3827 T>G (N1236K)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3756_3759del (p.Ser1253ArgfsTer10)BRCA1 3875_3878 del GTCT (STOP 1263)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3767_3768del (p.Thr1256ArgfsTer10)BRCA1 3886 delCA (STOP 1266)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.3869_3870del (p.Lys1290MetfsTer4)BRCA1 3988_3989 del AA (STOP 1293)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.396C>A (p.Asn132Lys)BRCA1 515 C>A (N132K)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4035del (p.Glu1346LysfsTer20)BRCA1 4154 del A (STOP 1365)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4039A>G (p.Arg1347Gly)BRCA1 4158 A>G (R1347G)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4097-141A>CBRCA1 IVS 11-141 A>C11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.4113del (p.Cys1372ValfsTer21)BRCA1 4232 del G (STOP 1392)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4183C>T (p.Gln1395Ter)BRCA1 4302 C>T(Q1395X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4185+2del21insABRCA1 IVS 12+2 del 21 ins A51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008)P
BRCA1 c.4185+9C>TBRCA1 IVS 12+9 C>T21/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA1 c.4186-1787_435BRCA1 Ex 13 Dup'n (STOP 1460) g44369_50449 dup 6kb51/12/2017Copy number duplication variant allele predicted to encode a non-functional protein.P
BRCA1 c.425C>A (p.Pro142His)BRCA1 544 C>A (P142H)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4274C>T (p.Pro1425Leu)BRCA1 4393 C>T (P1425L)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA1 c.427G>T (p.Glu143Ter)BRCA1 546 G>T (E143X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4308T>C (p.=)BRCA1 4427 T>C (S1436S)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.4327C>T (p.Arg1443Ter)BRCA1 4446 C>T (R1443X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4357+117G>ABRCA1 IVS 13+117 G>A11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.4373_4389del (p.Gln1458ProfsTer12)BRCA1 4491_4507 del 17 (STOP 1469)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.441+36_441+37delBRCA1 IVS 7+36 del CT31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.441+64dupBRCA1 IVS 7+39 ins T31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.442-34C>TBRCA1 IVS 7-34 C>T11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.4479_4484+2dup (p.?)BRCA1 IVS 14+2 ins 841/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA1 c.4484+1delGBRCA1 IVS 14+1 delG51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). Frequency >1% in an outbred samplesetSp
BRCA1 c.4484+49A>GBRCA1 IVS 14+49 A>G31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.4484G>C (p.Arg1495Thr)BRCA1 4603 G>C (R1495T)51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).P
BRCA1 c.4485-43A>GBRCA1 IVS 14-43 A>G31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.4485-63C>GBRCA1 IVS 14-63 C>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.4485-66C>GBRCA1 IVS 14-66 C>G31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.4485-8C>TBRCA1 IVS 14-8 C>T21/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA1 c.4535G>T (p.Ser1512Ile)BRCA1 4654 G>T (S1512I)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).LCS
BRCA1 c.4570del (p.Ser1524LeufsTer24)BRCA1 4689 del T (STOP 1547)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4574_4575del (p.Gln1525ArgfsTer5)BRCA1 4693_4694 del AA (STOP 1529)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4576G>T (p.Glu1526Ter)BRCA1 4695 G>T (E1526X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4600G>A (p.Val1534Met)BRCA1 4719 G>A (V1534M)11/12/2017IARC 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)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).LCS
BRCA1 c.4689C>G (p.Tyr1563Ter)BRCA1 4808 C>G (Y1563X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.470_471del (p.Ser157Ter)BRCA1 589_590 del CT (STOP 157)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4812A>G (p.=)BRCA1 4931 A>G (Q1604Q)11/12/2017Variant 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)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.4837del (p.Ser1613ValfsTer20)BRCA1 4956 del A (STOP 1632)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4936del (p.Val1646SerfsTer12)BRCA1 5055 del G (STOP 1657)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.4956G>A (p.Met1652Ile)BRCA1 5075 G>A (M1652I)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.LCS
BRCA1 c.4986+117A>TBRCA1 IVS 16+117 A>T21/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).LCS
BRCA1 c.4986+222A>GBRCA1 IVS 16+222 A>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.4986+224A>GBRCA1 IVS 16+224 A>G31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.4987-68A>GBRCA1 IVS 16-68 A>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.4987-92A>GBRCA1 IVS 16-92 A>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.4991T>C (p.Leu1664Pro)BRCA1 5110 T>C (L1664P)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.5066T>A (p.Met1689Lys)BRCA1 5185 T>A (M1689K)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA1 c.5074+1G>TBRCA1 IVS 17+1 G>T51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). Frequency >1% in an outbred samplesetP
BRCA1 c.5074+65G>ABRCA1 IVS 17+65 G>A11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.5074+66G>ABRCA1 IVS 17+66 G>A31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.5075-53C>TBRCA1 IVS 17-53 C>T11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.5095C>T (p.Arg1699Trp)BRCA1 5214 C>T (R1699W)51/12/2017IARC 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)51/12/2017Comprehensive 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)11/12/2017IARC 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)51/12/2017IARC 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)21/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.5152+15A>GBRCA1 IVS 18+15 A>G11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA1 c.5152+1G>TBRCA1 IVS 18+1 G>T (del exon 18)51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).P
BRCA1 c.5152+66G>ABRCA1 IVS 18+66 G>A11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.5152+73A>GBRCA1 IVS 18+73 A>G31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.5181_5182del (p.Lys1727AsnfsTer4)BRCA1 5300 delAA (STOP 1731)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.5193+1G>ABRCA1 IVS 19+1 G>A41/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).P
BRCA1 c.5194-12G>ABRCA1 IVS 19-12 G>A51/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.5212G>A (p.Gly1738Arg)BRCA1 5331 G>A (G1738R)51/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.5266dup (p.Gln1756ProfsTer74)BRCA1 5382_5383 ins C (STOP 1829)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.5277+1G>ABRCA1 IVS 20+1 G>A51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).P
BRCA1 c.5277+78G>ABRCA1 IVS 20+78 G>A11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).DIV
BRCA1 c.5278-70A>CBRCA1 IVS 20-70 A>C31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.5310del (p.Phe1772SerfsTer21)BRCA1 5429 del G (STOP 1792)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.5324T>A (p.Met1775Lys)BRCA1 5443 T>A (M1775K)51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).P
BRCA1 c.5333-153A>GBRCA1 IVS 21-153 A>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.DIV
BRCA1 c.5333-36_5406+400delBRCA1 IVS 21-36 del 510 (STOP 1805)51/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 c.5357T>C (p.Leu1786Pro)BRCA1 5476T>C (L1786P)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA1 c.536A>G (p.Tyr179Cys)BRCA1 655 A>G (Y179C)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).LCS
BRCA1 c.5406+54G>ABRCA1 IVS 22+54 G>A31/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).DIV
BRCA1 c.5407-193A>GBRCA1 IVS 22-193 A>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.5467+5G>CBRCA1 IVS 23+5 G>C21/12/2017IARC 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)51/12/2017Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts.P
BRCA1 c.547+146A>TBRCA1 IVS 8+146 A>T11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.547+1G>TBRCA1 IVS 8+1 G>T51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). Frequency >1% in an outbred samplesetSp
BRCA1 c.547+2T>A (p.Gln148AspfsTer51)BRCA1 IVS8+2T>A51/12/2017Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts.P
BRCA1 c.548-25delBRCA1 IVS 8-26 del T31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA1 c.548-58delTBRCA1 IVS 8-58 del T11/12/2017Frequency >1% in an outbred sampleset.PM
BRCA1 c.5496_5499del (p.Val1833ProfsTer9)BRCA1 5615_5618 del GGTG (STOP 1841)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.5497G>A (p.Val1833Met)BRCA1 5616 G>A (V1833M)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA1 c.5503_5564del (p.Arg1835ThrfsTer24)BRCA1 5622_5684 del 62 (STOP 1858)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.5503C>T (p.Arg1835Ter)BRCA1 5622 C>T (R1835X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.5513T>A (p.Val1838Glu)BRCA1 5632 T>A (V1838E)51/12/2017IARC 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)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).PM
BRCA1 c.593+16C>GBRCA1 IVS 9+16C>G31/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA1 c.593+76C>TBRCA1 IVS 9+76 T>C31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.594-225G>ABRCA1 IVS9-225 G>A11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.DIV
BRCA1 c.594-2A>CBRCA1 IVS 9-2 A>C11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA1 c.594-60delBRCA1 IVS 9-62 del T31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.64_65dup (p.Leu22PhefsTer2)BRCA1 184_185 ins TT (STOP 23)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.641A>G (p.Asp214Gly)BRCA1 760 A>G (D214G)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.670+16G>ABRCA1 IVS 10+16 G>A11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).PM
BRCA1 c.671-178G>ABRCA1 IVS 10-178 G>A11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.DIV
BRCA1 c.671-2A>GBRCA1 IVS 10-2 A>G01/12/2017Under investigationSp
BRCA1 c.-676T>ABRCA1 g.2808 T>A21/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.70_80del (p.Cys24SerfsTer13)BRCA1 189_199 del TGTCCCATCTG (STOP 36)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.-728A>GBRCA1 g.2756 A>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA1 c.-730C>TBRCA1 g.2754 C>T11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.UV
BRCA1 c.736T>G (p.Leu246Val)BRCA1 855 T>G (L246V)11/12/2017IARC 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)21/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 c.80+133T>CBRCA1 IVS 2+133 C>T31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA1 c.81-14C>TBRCA1 IVS 2-14 C>T11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).PM
BRCA1 c.81-65G>CBRCA1 IVS 2-65 G>C11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA1 g.(?_92501)_(113862_118104)delBRCA1 del exons 1_751/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(?_92501)_(127040_135409)delBRCA1 del exons 1_1251/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(?_92501)_(150376_154033)delBRCA1 del exons 1_1751/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(?_92501)_(160932_166867)delBRCA1 del exons 1_2051/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(?_92501)_(170341_172182)delBRCA1 del exons 1_2351/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.LGR
BRCA1 g.(?_92501)_(93967_102205)delBRCA1 del exons 1_251/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(102258_111451)_(111528_113028)delBRCA1 del exon 551/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(102258_111451)_(113862_118104)dupBRCA1 duplication exons 5_731/12/2017Insufficient evidence to determine clinical significanceLGR
BRCA1 g.(127040_135409)_(143653_146746)delBRCA1 del exons 13_1551/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(135580_141370)_(160932_166867)delBRCA1 del exons 14_2051/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.LGR
BRCA1 g.(143653_146746)_(150376_154033)delBRCA1 del exons 16_1751/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(154651_160849)_(160932_166867)delBRCA1 del exon 2051/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(154651_160849)_(160932_166867)delinsGBRCA1 del exon 20 ins G51/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(160932_166867)_(168863_170281)delBRCA1 del exons 21_2251/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(160932_166867)_(170341_172182)delBRCA1 del exons 21_2351/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.LGR
BRCA1 g.(160932_166867)_(173689_?)delBRCA1 del exons 21_2451/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.LGR
BRCA1 g.(170341_172182)_(173689_?)delBRCA1 del exon 2451/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.LGR
BRCA1 g.(92713_93869)_(173689_?)delBRCA1 del exons 2_2451/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1 g.(93967_102205)_(102258_111451)delBRCA1 del exon 351/12/2017Copy number deletion variant allele predicted to encode a non-functional protein. P
BRCA1 g.(93967_102205)_(147056_150289)delBRCA1 del exons 3_1651/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA1c.5277+48_5277+59ins12BRCA1 IVS 20+48 ins 1221/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008)PM
BRCA2 c.*105A>CBRCA2 10590 A>C (3'UTR)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.*106A>CBRCA2 IVS 27+105 A>C31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA2 c.*23delBRCA2 IVS 27+22 del A31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.*369A>GBRCA2 10854 A>G (3'UTR)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.10110G>A (p.=)BRCA2 10338 G>A (R3370R)11/12/2017Variant 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)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.10234A>G (p.Ile3412Val)BRCA2 10462 A>G (I3412V)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.1097dup (p.Leu366PhefsTer12)BRCA2 1325_1326 dup T (STOP 377)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1114A>C (p.Asn372His)BRCA2 1342 C>A (N372H)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.1151C>T (p.Ser384Phe)BRCA2 1379 C>T (S384F)11/12/2017IARC 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)21/12/2017Synonymous 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1238del (p.Leu413HisfsTer17)BRCA2 1466 del T (STOP 429)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.125A>G (p.Tyr42Cys)BRCA2 353 A>G (Y42C)11/12/2017IARC 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)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.1310_1313del (p.Lys437IlefsTer22)BRCA2 1537_1540 del AAAG (STOP 458)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1354C>A (p.Leu452Ile)BRCA2 1582 C>A (L452I)11/12/2017IARC 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)11/12/2017Class 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1395A>C (p.=)BRCA2 1623 A>C (V465V)21/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).PM
BRCA2 c.1514T>C (p.Ile505Thr)BRCA2 1742 T>C (I505T)11/12/2017IARC 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)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).LCS
BRCA2 c.160_161del (p.Asn54GlnfsTer9)BRCA2 388 del2 (STOP 63)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1689G>A (p.Trp563Ter)BRCA2 1917 G>A (W563X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1748T>A (p.Leu583Ter)BRCA2 1976 T>A (L583X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1773_1776del (p.Ile591MetfsTer22)BRCA2 2000_2003 del TTTA (STOP 612)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1786G>C (p.Asp596His)BRCA2 2014G>C (D596H)11/12/2017IARC 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)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1796C>T (p.Phe599Ser)BRCA2 2024 C>T (F599S)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1813dup (p.Ile605AsnfsTer11)BRCA2 2041_2042 ins A (STOP 615)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1820A>C (p.Lys607Thr)BRCA2 2048 A>C (K607T)21/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1906del (p.Ser636GlnfsTer8)BRCA2 2134 delT (STOP 644)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1909+22delBRCA2 IVS 10+12 del T11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.UV
BRCA2 c.1910-45G>CBRCA2 IVS 10-45 G>C21/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).DIV
BRCA2 c.1910-51G>TBRCA2 IVS 10-51 G>T11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.1910-74T>CBRCA2 IVS 10-74 T>C11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.1929del (p.Arg645GlufsTer15)BRCA2 2157 delG (STOP 660)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.1938C>T (p.=)BRCA2 2166 C>T (S646S)11/12/2017Variant 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)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.198A>G (p.=)BRCA2 426 A>G (Q66Q)11/12/2017Variant 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)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.215_215delinsTT (p.Asn72IlefsTer29)BRCA2 443 del A ins TT (STOP 100)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.2229T>C (p.=)BRCA2 2457 T>C (H743H)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.223G>C (p.Ala75Pro)BRCA2 342 G>C (A75P)11/12/2017IARC 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)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.2391G>A (p.=)BRCA2 2619 G>A (K797K)21/12/2017Synonymous 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)21/12/2017Synonymous 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.2537C>G (p.Ser846Ter)BRCA2 2765 C>G (S846X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.2606C>T (p.Ser869Leu)BRCA2 2834 C>T (S869L)31/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.2653G>A (p.Asp885Asn)BRCA2 2881 G>A (D885N)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.2680G>A (p.Val894Ile)BRCA2 2799 G>A (V894I)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.-26G>ABRCA2 203 G>A (5'UTR)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.2754C>T (p.=)BRCA2 2982 C>T (N918N)21/12/2017Synonymous 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.2803G>A (p.Asp935Asn)BRCA2 3031 G>A (D935N)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.2836_2837del (p.Asp946PhefsTer12)BRCA2 3064 delGA (STOP 958)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.2883G>A (p.=)BRCA2 3111G>A (Q961Q)11/12/2017Variant 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)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.303C>T (p.=)BRCA2 531 C>T (F101F)21/12/2017Synonymous 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.314T>G (p.Leu105Ter)BRCA2 542 T>G (L105X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.3158T>G (p.Leu1053Ter)BRCA2 3386 T>G (L1053X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.316+108A>GBRCA2 IVS 3+108 A>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.DIV
BRCA2 c.316+329A>GBRCA2 IVS 3+329 A>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.DIV
BRCA2 c.316+330G>ABRCA2 IVS 3+33 G>A31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA2 c.316+33G>ABRCA2 IVS 3+33 G>A31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA2 c.3160_3163del (p.Asp1054IlefsTer5)BRCA2 3388_3391 del GATA (STOP 1058)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.3396A>G (p.=)BRCA2 3624 A>G (K1132K)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.3420T>C (p.=)BRCA2 3648 T>C (S1140S)11/12/2017Variant 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)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.LCS
BRCA2 c.3516G>A (p.=)BRCA2 3744 G>A (S1172S)11/12/2017Variant 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.3680_3681del (p.Leu1227GlnfsTer5)BRCA2 3908_3909 del TG (STOP 1231)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.3689del (p.Ser1230LeufsTer9)BRCA2 3917 del C (STOP 1238)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.3744_3747del (p.Ser1248ArgfsTer10)BRCA2 3972_3975 del TGAG (STOP 1257)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.3785C>G (p.Ser1262Ter)BRCA2 4013 C>G (S1262X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.3793T>A (p.Cys1265Ser)BRCA2 4021 T>A (C1265S)11/12/2017IARC 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)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.3826G>A (p.Glu1276Lys)BRCA2 4054 G>A (E1276K)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.3847_3848del (p.Val1283LysfsTer2)BRCA2 4075_4076 del GT (STOP 1284)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.-39-26G>ABRCA2 IVS 1-26 G>A31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.396T>A (p.Cys132Ter)BRCA2 624 T>A (C132X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.4037_4038del (p.Thr1346SerfsTer5)BRCA2 4265_4266 del CT (STOP 1350)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.4054G>A (p.Asp1352Asn)BRCA2 4282 G>A (D1352N)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.4068G>A (p.=)BRCA2 4296 G>A (L1356L)11/12/2017Variant 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.4141_4143del (p.Lys1381del)BRCA2 4369delAAA (p.Lys1381del)21/12/2017IARC 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 AGA11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.4163C>A (p.Thr1388Asn)BRCA2 4391 C>A (T1388N)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.4169del (p.Leu1390TrpfsTer20)BRCA2 4397 del T (STOP 1409)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.4189G>A (p.Glu1397Lys)BRCA2 4417 G>A (E1397K)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.425+147G>TBRCA2 IVS 4+147 G>T11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.425+67A>CBRCA2 IVS 4+67 A>C11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.4258G>T (p.Asp1420Tyr)BRCA2 4486 G>T (D1420Y)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.LCS
BRCA2 c.425G>A (p.Ser142Asn)BRCA2 653G>A (S142N)41/12/2017G>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_426-8delBRCA2 IVS 4-12_-8 del GTTTT (del exon 5)31/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).DIV
BRCA2 c.426-89T>CBRCA2 IVS 4-89 T>C11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.433_435del (p.Val145del)BRCA2 661 del GTT31/12/2017IARC 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)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.4375A>G (p.Asn1459Asp)BRCA2 4603 A>G (N1459D)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.438A>G (p.=)BRCA2 666 A>G ( L146L)21/12/2017Synonymous 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.4398_4402del (p.Leu1466PhefsTer2)BRCA2 4626_4630 del 5 (STOP 1467)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.440A>G (p.Gln147Arg)BRCA2 668 A>G (Q147R)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.4436G>C (p.Ser1479Thr)BRCA2 4664G>C (S1479T)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.4440T>G (p.Tyr1480Ter)BRCA2 4668 T>G (Y1480X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.4478_4481del (p.Glu1493ValfsTer10)BRCA2 4706_4709 del AAAG (STOP 1502)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.4563A>G (p.=)BRCA2 4791 A>G (L1521L)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.4585G>A (p.Gly1529Arg)BRCA2 4813 G>A (G1529R)11/12/2017IARC 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)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.4699C>T (p.=)BRCA2 4927 C>T (L1567L)21/12/2017Synonymous 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.4712_4713del (p.Glu1571GlyfsTer3)BRCA2 4940_4941 del AG (STOP 1573)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.4876_4877del (p.Asn1626SerfsTer12)BRCA2 5104delAA (STOP 1637)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.4977C>T (p.=)BRCA2 5205 C>T (S1659S)21/12/2017Synonymous 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)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).LCS
BRCA2 c.5070A>C (p.Lys1690Asn)BRCA2 5298 A>C (K1690N)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.51_52del (p.Arg18LeufsTer12)BRCA2 279 delAC (STOP 30)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5130_5133del (p.Tyr1710Ter)BRCA2 5358_5361 del 4 (STOP 1710)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5141_5144del (p.Tyr1714CysfsTer10)BRCA2 5369_5372 del ATTT (STOP 1723)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.516+102T>CBRCA2 6+102 T>C11/12/2017Variant 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>TBRCA2 IVS 6+1 G>T41/12/2017Consensus donor/acceptor site variant allele with high likelihood to result in splicing aberration with pathogenic consequences.Sp
BRCA2 c.516+21A>TBRCA2 IVS 6+21 A>T11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.UV
BRCA2 c.517-2A>GBRCA2 IVS 6-2 A>G41/12/2017IARC 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>C51/12/2017Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts.P
BRCA2 c.5199C>T (p.=)BRCA2 5427 C>T (S1733S)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.5217_5223del (p.Tyr1739Ter)BRCA2 5445_5451 del7 (STOP 1739)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5237_5238dup (p.Asn1747LeufsTer31)BRCA2 5465 insT (STOP 1778)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5278T>G (p.Ser1760Ala)BRCA2 5506 T>G (S1760A)21/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5286T>A (p.Tyr1762Ter)BRCA2 5514 T>A (Y1762X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5319G>A (p.=)BRCA2 5547 G>A (E1773E) 21/12/2017Synonymous 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5350_5351del (p.Asn1784HisfsTer2)BRCA2 5578 delAA (STOP 1785)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.538_539dup (p.Ser181PhefsTer5)BRCA2 767_768 ins AT (STOP185)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.53G>A (p.Arg18His)BRCA2 281 G>A (R18H)11/12/2017IARC 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)21/12/2017Synonymous 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5641_5644del (p.Lys1881GlnfsTer27)BRCA2 5869_5872 del AAAT (STOP 1907)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5645C>A (p.Ser1882Ter)BRCA2 5873 C>A (S1882X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5681dup (p.Tyr1894Ter)BRCA2 5909 ins A (STOP 1894)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5682C>G (p.Tyr1894Ter)BRCA2 5910 C>G (Y1894X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5714A>G (p.His1905Arg)BRCA2 5942 A>G (H1905R)21/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.574_575del (p.Met192ValfsTer13)BRCA2 802_803 del AT (STOP 204)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5744C>T (p.Thr1915Met)BRCA2 5972 C>T (T1915M)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.5785A>G (p.Ile1929Val)BRCA2 5904 A>G (I1929V)11/12/2017Class 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5864C>A (p.Ser1955Ter)BRCA2 6092 C>A (S1955X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5897A>G (p.His1966Arg)BRCA2 6125 A>G (H1966R)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.5909C>A (p.Ser1970Ter)BRCA2 6137 C>A (S1970X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.5945G>C (p.Ser1982Thr)BRCA2 6173 G>C (S1982T)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.5946del (p.Ser1982ArgfsTer22)BRCA2 6174 del T (STOP 2003)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6010G>A (p.Glu2004Lys)BRCA2 6238 G>A (E2004K)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.6078_6079del (p.Glu2028ArgfsTer20)BRCA2 6306_6307delAA (STOP 2047)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6079dup (p.Arg2027LysfsTer22)BRCA2 6307_6308 ins A (STOP 2048)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6100C>T (p.Arg2034Cys)BRCA2 6328 C>T (R2034C)11/12/2017Variant 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)11/12/2017IARC 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)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.6240dup (p.Glu2081ArgfsTer4)BRCA2 6468_6469 ins A (STOP 2084)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6275_6276del (p.Leu2092ProfsTer7)BRCA2 6503_6504 del TT (STOP 2098)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.631+183T>ABRCA2 IVS 7+183 T>A11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.631+2T>GBRCA2 IVS7+2 T>G51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). Frequency >1% in an outbred samplesetP
BRCA2 c.631G>C (p.Val211Leu)BRCA2 859 G>C (V211L )41/12/2017G>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>ABRCA2 IVS 7-1 G>A51/12/2017IARC 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)11/12/2017IARC 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)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.632-69T>CBRCA2 IVS 7-69 T>C31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA2 c.6331_6332del (p.Lys2111GlufsTer17)BRCA2 6559_6560 del AA (STOP 2127)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6405_6409del (p.Asn2135LysfsTer3)BRCA2 6633_6637 del CTTAA (STOP 2137)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6450dup (p.Val2151SerfsTer25)BRCA2 6569 dup (STOP 1240)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6468_6469del (p.Gln2157IlefsTer18)BRCA2 6696_6697 del TC (STOP 2174)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6475C>T (p.Gln2159Ter)BRCA2 6594 C>T (Q2159X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6486_6489del (p.Lys2162AsnfsTer5)BRCA2 6714_6717 del ACAA (STOP 2166)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6513G>C (p.=)BRCA2 6741 C>G (V2171V)11/12/2017Class 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.658_659del (p.Val220IlefsTer4)BRCA2 886_887delGT (STOP 223)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6588_6589del (p.Lys2196AsnfsTer2)BRCA2 6815_6816delAA51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6626_6627del (p.Ile2209ArgfsTer15)BRCA2 6854_6855 del TA (STOP 2223)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6641dup (p.Tyr2215LeufsTer10)BRCA2 6869 ins C (STOP 2223)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6675A>G (p.=)BRCA2 6903 A>G (T2225T)21/12/2017IARC 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 A51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6698C>A (p.Ala2233Asp)BRCA2 6926C>A (A2233D)21/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.67+62T>GBRCA2 IVS 2+62 T>G11/12/2017Variant 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>GBRCA2 IVS 2+82 C>G11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).DIV
BRCA2 c.6743_6755del (p.His2248LeufsTer28)BRCA2 6971_6983 del ATGCCACACATTC (STOP 2275)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.681+1G>ABRCA2 IVS 8+1 G>A41/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).Sp
BRCA2 c.681+56C>TBRCA2 IVS 8+56 C>T11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.6821G>T (p.Gly2274Val)BRCA2 7049 G>T (G2274V)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). Frequency >1% in an outbred samplesetLCS
BRCA2 c.682-32A>GBRCA2 IVS 8-32 A>G31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA2 c.6825del (p.Glu2275AspfsTer5)BRCA2 7053 delG (STOP 2280)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6841+191C>ABRCA2 IVS 11+191 C>A11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.6841+80_6841+83delBRCA2 IVS 11+80 del TTAA11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.DIV
BRCA2 c.68-7T>ABRCA2 IVS 2-7 T>A11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.6938-120T>CBRCA2 IVS 12-120T>C11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.DIV
BRCA2 c.6938-346G>ABRCA2 12-346G>A11/12/2017Class 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6952C>T (p.Arg2318Ter)BRCA2 7180 C>T (R2318X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.6953G>A (p.Arg2318Gln)BRCA2 7181 G>A (R2318Q)11/12/2017IARC 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)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.6996_7004delins20 (p.Cys2332fs)BRCA2 7224_7232 del 9 ins 2051/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7007+136C>ABRCA2 IVS 13+136 C>A31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA2 c.7007G>A (p.Arg2336His)BRCA2 7235G>A (R2336H)51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).P
BRCA2 c.7008-62A>GBRCA2 IVS 13-62 A>G11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).DIV
BRCA2 c.7061A>C (p.Gln2354Pro)BRCA2 7289A>C (Q2354P)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.7069_7070del (p.Leu2357ValfsTer2)BRCA2 7297_7298 del CT (STOP 2358)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7133C>G (p.Ser2378Ter)BRCA2 7361 C>G (S2378X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7242A>G (p.=)BRCA2 7470 A>G (S2414S)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.7336A>G (p.Lys2446Glu)BRCA2 7564 A>G (K2446E)21/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7397C>T (p.Ala2466Val)BRCA2 7625 C>T (A2466V)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.7415A>C (p.Lys2472Thr)BRCA2 7643 A>C (K2472T)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7435+53C>TBRCA2 IVS 14+53 C>T11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.7436-1G>TBRCA2 IVS 14-1 G>T41/12/2017Consensus 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7521A>G (p.=)BRCA2 7749 A>G (P2507P)11/12/2017IARC 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)11/12/2017IARC 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)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7558C>T (p.Arg2520Ter)BRCA2 7786 C>T (R2520X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7618-309T>CBRCA2 IVS 15-309 T>C31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA2 c.7667dup (p.Asn2556LysfsTer10)BRCA2 7895_7896 ins A (STOP 2565)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.767del (p.Thr256LysfsTer21)BRCA2 995 del C (STOP 276)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7757G>A (p.Trp2586Ter)BRCA2 7985 G>A (W2586X)51/12/2017Variant 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.778_779del (p.Glu260SerfsTer15)BRCA2 1006 delGA (STOP 275)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7806-14T>CBRCA2 IVS 16-14 T>C11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.7806-2_7806-1dupBRCA2 IVS 16-2 ins AG51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).P
BRCA2 c.7806-40A>GBRCA2 IVS 16-40 A>G11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.DIV
BRCA2 c.7828G>A (p.Val2610Met)BRCA2 8056 G>A (V2610M)31/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.7884dup (p.Trp2629MetfsTer12)BRCA2 8112_8113 ins A (STOP 2640)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7934del (p.Arg2645AsnfsTer3)BRCA2 8162del G (STOP 2647)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7940_7941insC (p.Ser2648LysfsTer14)BRCA2 8168_8169 ins C (STOP 2661)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7976G>C (p.Arg2659Thr)BRCA2 8204 G>C (R2659T)51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.7977-1G>CBRCA2 IVS 17-1 G>C 51/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.7988A>T (p.Glu2663Val)BRCA2 8216 A>T (E2663V)51/12/2017IARC 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)11/12/2017IARC 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)31/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.8149G>T (p.Ala2717Ser)BRCA2 8377 G>T (A2717S)11/12/2017IARC 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)51/12/2017IARC 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)59/03/2018IARC 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 )51/12/2017IARC 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)11/12/2017Variant 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)31/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.8247_8248del (p.Lys2750AspfsTer13)BRCA2 8475 _8476 del GA (STOP 2762)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.8297del (p.Thr2766AsnfsTer11)BRCA2 8525 del C (STOP 2776)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.8308G>A (p.Ala2770Thr)BRCA2 8536 G>A (A2770T)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.8486A>G (p.Gln2829Arg)BRCA2 8714 A>G (del exon 19)51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).P
BRCA2 c.8487+1G>ABRCA2 IVS 19+1 G>A51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).P
BRCA2 c.8561dup (p.Tyr2854Ter)BRCA2 8789 ins A (STOP 2854)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.8567A>C (p.Glu2856Ala)BRCA2 8795 A>C (E2856A)11/12/2017IARC 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)21/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.8585dup (p.Glu2863ArgfsTer6)BRCA2 8813_8814 ins T (STOP 2868)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.8588_8590dup (p.Glu2863dup)BRCA2 8816 ins AAG31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.8620G>T (p.Glu2874Ter)BRCA2 8848 G>T (STOP 2874)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.8632+1G>ABRCA2 IVS 20+1 G>A51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008)P
BRCA2 c.8632+41G>ABRCA2 IVS 20+41 G>A31/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA2 c.8633-24_8634del (p.?)BRCA2 IVS 20-24 del2651/12/2017IARC 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)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.865A>G (p.Asn289Asp)BRCA2 1093 A>G (N289D)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.8704G>A (p.Ala2902Thr)BRCA2 8932 G>A (A2902T)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.8734G>A (p.Ala2912Thr)BRCA2 8962 G>A (A2912T)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.8754+15G>CBRCA2 IVS 21+15 G>C31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.8754+75A>GBRCA2 IVS 21+75 A>G11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).DIV
BRCA2 c.8755-66T>CBRCA2 IVS 21-66 T>C11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.8839G>A (p.Glu2947Lys)BRCA2 9067 G>A (E2947K)21/12/2017IARC 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)11/12/2017IARC 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)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.LCS
BRCA2 c.8878C>T (p.Gln2960Ter)BRCA2 9106 C>T (Q2960X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.8902_8913delinsTCCC (p.Thr2968SerfsTer47)BRCA2 9130 del12insTCCC (STOP 3015)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.8904del (p.Val2969CysfsTer7)BRCA2 9132 del C (STOP 2975)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.8905G>A (p.Val2969Met)BRCA2 9133 G>A (V2969M)11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.8917C>T (p.Arg2973Cys)BRCA2 9145 C>T (R2973C)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.9038C>T (p.Thr3013Ile)BRCA2 9266 C>T (T3013I)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.9089C>T (p.Thr3030Ile)BRCA2 9317 C>T (T3030I)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.9097dup (p.Thr3033AsnfsTer11)BRCA2 9325_9326 ins A (STOP 3043)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.9104A>G (p.Tyr3035Cys)BRCA2 9332 A>G (Y3035C)31/12/2017Insufficient evidence to determine clinical significanceUV
BRCA2 c.9109C>T (p.Gln3037Ter)BRCA2 9337 C>T (Q3037X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.9116C>T (p.Pro3039Leu)BRCA2 9344 C>T (P3039L)31/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.9117+1G>ABRCA2 IVS 23+1 G>A41/12/2017Consensus 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)51/12/2017IARC 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 transcriP
BRCA2 c.9154C>T (p.Arg3052Trp)BRCA2 9382 C>T (R3052W)51/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.9226G>A (p.Gly3076Arg) 51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008). 
BRCA2 c.9257-16T>CBRCA2 IVS 24-16 T>C11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.9257-1G>ABRCA2 IVS 24-1 G>A41/12/2017Consensus donor/acceptor site variant allele with high likelihood to result in splicing aberration with pathogenic consequences.Sp
BRCA2 c.9257-83G>ABRCA2 IVS 24-83 G>A11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 c.9269dup (p.Val3091ArgfsTer20)BRCA2 9497_9498 ins T (STOP 3110)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.9292T>C ((p.Tyr3098His)BRCA2 9520 T>C (Y3098H)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.9364G>A (p.Ala3122Thr)BRCA2 9592 G>A (A3122T)21/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.9403del (p.Leu3135PhefsTer28)BRCA2 9631 del C (STOP 3162)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.9501+3A>TBRCA2 IVS 25+3 A>T11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).UV
BRCA2 c.9502-12T>GBRCA2 IVS 25-12 T>G11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).PM
BRCA2 c.9649-19G>ABRCA2 IVS 26-19 G>A11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.DIV
BRCA2 c.9649-20C>TBRCA2 IVS 26-20 C>T11/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).PM
BRCA2 c.9649-65_9649-62delBRCA2 IVS 26-65del431/12/2017Insufficient evidence to determine clinical significanceDIV
BRCA2 c.978C>A (p.Ser326Arg)BRCA2 1097 C>A (S326R)11/12/2017IARC 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)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
BRCA2 c.9976A>T (p.Lys3326Ter)BRCA2 10204 A>T (K3326X)11/12/2017Class 1 not pathogenic based on frequency >1% in an outbred sampleset.PM
BRCA2 g.(?_5001)_(6048_8598)delBRCA2 del exons 1_251/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).LGR
BRCA2 g.(?_5001)_(89193_?)delBRCA2 del exons 1_2751/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.P
BRCA2 g.(36417_44382)_(47450_52044)delBRCA2 del exons 14_1651/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).LGR
BRCA2 g.(53054_59923)_(60621_66191)delBRCA2 del exons 19_2051/12/2017Copy number deletion variant allele predicted to encode a non-functional protein.LGR
BRCA2 g.(69666_84210)_(89193_?)delBRCA2 del exons 25_2751/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008).LGR
BRCA2c.9226G>A (p.Gly3076Arg)BRCA2 9454G>A (G3076R)51/12/2017IARC 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 C51/12/2017Associated with modest risk of ER-positive disease (OR 2.6) based on large-scale breast cancer case-control analysis.LCS
MSH2 c.1777C>T (p.Gln593Ter)MSH2 c.1777 C>T p.Gln593X51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
MSH2 g.59908-?_67939+?dup (dup exons9_11)MSH2 dup exons 9_1131/12/2017Duplication, breakpoints not definedP
MSH6 c.3188T>G (p.Leu1063Arg)N/A51/12/2017IARC class based on posterior probability from multifactorial likelihood analysis, thresholds as per Plon et al (2008) 
PALB2 c.1010T>C (p.Leu337Ser)N/A11/12/2017Not pathogenic based on frequency >1% in an outbred sampleset.  
PALB2 c.1431C>T (p.=)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.1470C>T (p.=)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.1475G>T (p.Gly492Val)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.1572A>G (p.=)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.1610C>T (p.Ser537Leu)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.1676A>G (p.Gln559Arg)N/A11/12/2017Not pathogenic based on frequency >1% in an outbred sampleset.  
PALB2 c.1684+39_1684+41dupN/A11/12/2017Not pathogenic based on frequency >1% in an outbred sampleset.  
PALB2 c.1685-2A>GN/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.1935G>A (p.=)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.1947dup (p.Glu650ArgfsTer13)N/A51/12/2017Variant allele predicted to encode a truncated non-functional protein. 
PALB2 c.196C>T (p.Gln66Ter)N/A51/12/2017Variant allele predicted to encode a truncated non-functional protein. 
PALB2 c.2014G>C (p.Glu672Gln)N/A11/12/2017Not pathogenic based on frequency >1% in an outbred sampleset.  
PALB2 c.212-58A>CN/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.2235del (p.Ala746HisfsTer18)N/A51/12/2017Variant allele predicted to encode a truncated non-functional protein. 
PALB2 c.2469C>A (p.=)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.2590C>T (p.Pro864Ser)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.2674G>A (p.Glu892Lys)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.2816T>G (p.Leu939Trp)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.2823C>A (p.=)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.2834+12C>TN/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.2982dup (p.Ala995CysfsTer16)N/A51/12/2017Variant allele predicted to encode a truncated non-functional protein. 
PALB2 c.2993G>A (p.Gly998Glu)N/A11/12/2017Not pathogenic based on frequency >1% in an outbred sampleset.  
PALB2 c.3113G>A (p.Trp1038Ter)N/A51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
PALB2 c.3300T>G (p.=)N/A11/12/2017Not pathogenic based on frequency >1% in an outbred sampleset.  
PALB2 c.3321G>A (p.=)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.-47G>AN/A11/12/2017Not pathogenic based on frequency >1% in an outbred sampleset.  
PALB2 c.656A>G (p.Asp219Gly)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.90G>T (p.Lys30Asn)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.94C>G (p.Leu32Val)N/A31/12/2017Insufficient evidence to determine clinical significance 
PALB2 c.956C>A (p.Ser319Tyr)N/A31/12/2017Insufficient evidence to determine clinical significance 
PTEN c.217G>T (p.Glu73Ter)PTEN 217 G>T (E73X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
PTEN c.302_304delinsCC (p.Ile101ThrfsTer12)N/A51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
TP53 c.1009C>T (p.Arg337Cys) 41/12/2017Multiple points of evidence suggest association with clinical phenotype. 
TP53 c.1163A>C (p.Glu388Ala) 21/12/2017Likely not pathogenic based on bioinformatic and functional evidence 
TP53 c.215C>G (p.Pro72Arg)p53 c.21511/12/2017Not pathogenic based on frequency >1% in an outbred sampleset.  
TP53 c.-28-?_559+?dup 31/12/2017Insufficient evidence to classify using ACMG - but displays features indicative of pathogenicity 
TP53 c.-28-?_672+?dupP53 dup exons 2_631/12/2017Insufficient evidence to classify using ACMG - but displays features indicative of pathogenicityLGR
TP53 c.378C>A (p.Tyr126X)P53 378 C>A (Y126X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
TP53 c.393_395delCAA (p.Asn131del)P53 c.393_395delCAA (p.Asn131del) in exon 531/12/2017Insufficient evidence to classify 
TP53 c.424C>A (p.Pro142Thr)p53 424 C>A (P142T)31/12/2017Insufficient evidence to classify 
TP53 c.424C>T (p.Pro142Thr)P53 g.13103 C>T (P142T)31/12/2017Insufficient evidence to classifyUV
TP53 c.474C>T (p.=)P53 g.13147 C>T (R158R)21/12/2017Silent variant, found in controlsSV
TP53 c.523C>T (p.Arg175Cys) 31/12/2017Insufficient evidence to classify 
TP53 c.524G>A (p.Arg175His)P53 524 G>A (R175H)51/12/2017Known pathogenic hotspotP
TP53 c.560G>A (p.Gly187Asp) 31/12/2017Insufficient evidence to classify 
TP53 c.584T>C (p.Ile195Thr)P53 c.584T>C (p.Ile195Thr)41/12/2017Multiple points of evidence suggest loss of function and association with clinical phenotype. 
TP53 c.586C>T (p.Arg196X)P53 586 C>T (R196X)51/12/2017Variant allele predicted to encode a truncated non-functional protein.P
TP53 c.604C>T (p.Arg202Cys) 31/12/2017Insufficient evidence to classify 
TP53 c.613T>G (p.Tyr205Asp) 31/12/2017Insufficient evidence to classify 
TP53 c.639A>G (p.=)P53 g.13399 A>G (R213R)11/12/2017Not pathogenic based on frequency >1% in an outbred sampleset. PM
TP53 c.647T>G (p.Val216Gly)P53 647 T>G (V216G)31/12/2017Insufficient evidence to classifyUV
TP53 c.673-16C>TP53 IVS6-16 C>T31/12/2017Insufficient evidence to classifyUV
TP53 c.673-4C>TP53 IVS6-4 C>T31/12/2017Insufficient evidence to classifyUV
TP53 c.725G>A (p.Cys242Tyr)p53 725 G>A (C242Y)41/12/2017Multiple points of evidence suggest association with clinical phenotype.UV
TP53 c.736A>G (p.Met246Val)P53 g.14063 A>G (M246V)41/12/2017Multiple points of evidence suggest loss of function and association with clinical phenotype.UV
TP53 c.742C>T (p.Arg248Trp)P53 g.14069 C>T (R248W)51/12/2017Multiple 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)51/12/2017Multiple points of evidence suggest loss of function and association with clinical phenotype. Known pathogenic hotspot.P
TP53 c.782+72C>TP53 IVS7+72 C>T11/12/2017Not pathogenic based on frequency >1% in an outbred sampleset. PM
TP53 c.782+92T>GP53 IVS7+92 T>G11/12/2017Not pathogenic based on frequency >1% in an outbred sampleset. PM
TP53 c.784G>A (p.Gly262Ser) 31/12/2017Insufficient evidence to classify