ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 253
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.1010dup (p.Asn337fs) rs2072402499
NM_000059.4(BRCA2):c.1023_1024del (p.Cys341_Glu342delinsTer) rs1593891760
NM_000059.4(BRCA2):c.1024dup (p.Glu342fs) rs2548519378
NM_000059.4(BRCA2):c.1062dup (p.Val355fs) rs1555281716
NM_000059.4(BRCA2):c.1065dup (p.Ser356fs) rs2548519452
NM_000059.4(BRCA2):c.1134dup (p.Gly379fs) rs2548519619
NM_000059.4(BRCA2):c.1152del (p.Lys385fs) rs2548519671
NM_000059.4(BRCA2):c.1275_1276delinsG (p.Asp427fs) rs2548519924
NM_000059.4(BRCA2):c.1309A>T (p.Lys437Ter)
NM_000059.4(BRCA2):c.1333del (p.Ser445fs) rs1555281841
NM_000059.4(BRCA2):c.1368_1369del (p.Lys457fs) rs397507583
NM_000059.4(BRCA2):c.1435del (p.Asp479fs) rs2533258726
NM_000059.4(BRCA2):c.1442_1449del (p.Ile481fs) rs2548520270
NM_000059.4(BRCA2):c.1472del (p.Thr491fs) rs1566223656
NM_000059.4(BRCA2):c.1501_1502dup (p.Lys502fs) rs2548520399
NM_000059.4(BRCA2):c.1507A>T (p.Lys503Ter) rs2137472200
NM_000059.4(BRCA2):c.1512_1513insG (p.Ile505fs) rs2548520422
NM_000059.4(BRCA2):c.1571dup (p.Met524fs) rs2548520542
NM_000059.4(BRCA2):c.1587_1591del (p.Phe529fs) rs2548520580
NM_000059.4(BRCA2):c.1628_1631del (p.His543fs)
NM_000059.4(BRCA2):c.1664del (p.Pro555fs) rs2548520754
NM_000059.4(BRCA2):c.1671_1674del (p.Asp559fs) rs886040379
NM_000059.4(BRCA2):c.1689del (p.Trp563fs) rs876659278
NM_000059.4(BRCA2):c.1713del (p.Ser571_Val572insTer) rs2548520865
NM_000059.4(BRCA2):c.171del (p.Asn56_Tyr57insTer) rs1555280367
NM_000059.4(BRCA2):c.1748_1750delinsGG (p.Leu583fs) rs2548520933
NM_000059.4(BRCA2):c.174del (p.Glu58fs)
NM_000059.4(BRCA2):c.1803del (p.Gly602fs) rs2548521047
NM_000059.4(BRCA2):c.1818_1819del (p.Lys607fs) rs2072423291
NM_000059.4(BRCA2):c.1848T>A (p.Cys616Ter) rs2137475605
NM_000059.4(BRCA2):c.1850delinsTGA (p.Ser617fs) rs2548521167
NM_000059.4(BRCA2):c.1921del (p.Ser641fs) rs2548522770
NM_000059.4(BRCA2):c.1959dup (p.Glu654fs) rs2548522873
NM_000059.4(BRCA2):c.2004dup (p.Lys669fs)
NM_000059.4(BRCA2):c.2019del (p.Asn673fs) rs2548523001
NM_000059.4(BRCA2):c.2039_2043del (p.Thr680fs) rs2548523045
NM_000059.4(BRCA2):c.2039del (p.Thr680fs)
NM_000059.4(BRCA2):c.2072del (p.Ala691fs)
NM_000059.4(BRCA2):c.2096del (p.Gln699fs) rs2548523161
NM_000059.4(BRCA2):c.2156del (p.Asn719fs) rs2548523287
NM_000059.4(BRCA2):c.215del (p.Asn72fs) rs2548511361
NM_000059.4(BRCA2):c.2225_2252dup (p.Thr751_Asp752insThrPheLysSerGlyIleGlnTer) rs2548523437
NM_000059.4(BRCA2):c.2283T>A (p.Tyr761Ter) rs925988904
NM_000059.4(BRCA2):c.2415del (p.Asp806fs) rs2548523829
NM_000059.4(BRCA2):c.2495_2502del (p.Glu832fs) rs2548524102
NM_000059.4(BRCA2):c.2507del (p.Pro836fs) rs2548524147
NM_000059.4(BRCA2):c.2554_2559delinsT (p.Phe851_Asn852insTer) rs2548524249
NM_000059.4(BRCA2):c.2572A>T (p.Arg858Ter)
NM_000059.4(BRCA2):c.2592del (p.Glu865fs) rs2137487979
NM_000059.4(BRCA2):c.2648_2650delinsCC (p.Phe883fs) rs2548524406
NM_000059.4(BRCA2):c.2715_2716insTA (p.Thr906Ter) rs2548524534
NM_000059.4(BRCA2):c.2734dup (p.Thr912fs) rs2548524566
NM_000059.4(BRCA2):c.2802dup (p.Asp935Ter) rs2548524674
NM_000059.4(BRCA2):c.2820dup (p.Val941fs)
NM_000059.4(BRCA2):c.2886_2907del (p.His962fs) rs2548524821
NM_000059.4(BRCA2):c.2902_2911del (p.Leu967_Gly968insTer) rs2548524851
NM_000059.4(BRCA2):c.2912dup (p.Leu971fs)
NM_000059.4(BRCA2):c.2928_2941delinsG (p.Leu977fs) rs2548524895
NM_000059.4(BRCA2):c.2931_2932delinsT (p.Leu977fs) rs2548524903
NM_000059.4(BRCA2):c.2988_2997del (p.Leu997fs) rs2548525000
NM_000059.4(BRCA2):c.3053dup (p.Leu1019fs) rs2548525123
NM_000059.4(BRCA2):c.3060_3061del (p.Glu1021fs) rs1064794821
NM_000059.4(BRCA2):c.3068dup (p.Asn1023fs) rs80359368
NM_000059.4(BRCA2):c.3125T>G (p.Leu1042Ter) rs1593898642
NM_000059.4(BRCA2):c.3133_3134del (p.Cys1044_Val1045insTer) rs1593898654
NM_000059.4(BRCA2):c.3205_3206insTAATTGCAGTCAATTAATA (p.Ser1069delinsLeuIleAlaValAsnTer) rs1064795469
NM_000059.4(BRCA2):c.3222del (p.Ser1074fs) rs2548525476
NM_000059.4(BRCA2):c.3230_3231insAGTAG (p.Ser1079fs) rs2548525501
NM_000059.4(BRCA2):c.3251_3254del (p.Ser1084fs) rs2072475980
NM_000059.4(BRCA2):c.3291dup (p.Asn1098Ter) rs690016540
NM_000059.4(BRCA2):c.3346_3347delinsT (p.Thr1116fs) rs2548525730
NM_000059.4(BRCA2):c.3385_3386del (p.Gln1129fs) rs2548525823
NM_000059.4(BRCA2):c.3394A>T (p.Lys1132Ter) rs2137496133
NM_000059.4(BRCA2):c.3460_3461insG (p.Thr1154fs) rs2548526023
NM_000059.4(BRCA2):c.3460del (p.Thr1154fs) rs2548526021
NM_000059.4(BRCA2):c.3472G>T (p.Glu1158Ter) rs1555283258
NM_000059.4(BRCA2):c.3476del (p.Cys1159fs) rs2548526054
NM_000059.4(BRCA2):c.3514del (p.Ser1172fs) rs2548526125
NM_000059.4(BRCA2):c.3567dup (p.Arg1190fs) rs2548526233
NM_000059.4(BRCA2):c.3581del (p.Gly1194fs)
NM_000059.4(BRCA2):c.3623dup (p.Leu1208fs)
NM_000059.4(BRCA2):c.3653dup (p.Phe1219fs) rs2548526518
NM_000059.4(BRCA2):c.3715A>T (p.Lys1239Ter) rs374191973
NM_000059.4(BRCA2):c.3721_3727del (p.Phe1241fs)
NM_000059.4(BRCA2):c.3725del (p.Ser1242fs)
NM_000059.4(BRCA2):c.3972_3973del (p.Thr1325fs) rs886040506
NM_000059.4(BRCA2):c.4050dup (p.Lys1351Ter) rs2548527511
NM_000059.4(BRCA2):c.4081C>T (p.Gln1361Ter) rs587780652
NM_000059.4(BRCA2):c.417del (p.Ser140fs) rs2548514179
NM_000059.4(BRCA2):c.4304del (p.Asn1435fs) rs886040520
NM_000059.4(BRCA2):c.4370del (p.Leu1457fs) rs2548528212
NM_000059.4(BRCA2):c.4375_4378del (p.Asn1459fs)
NM_000059.4(BRCA2):c.439del (p.Gln147fs)
NM_000059.4(BRCA2):c.4416del (p.Asn1473fs) rs2548528324
NM_000059.4(BRCA2):c.444T>A (p.Cys148Ter) rs2137449498
NM_000059.4(BRCA2):c.4483_4484del (p.Val1495fs) rs886038105
NM_000059.4(BRCA2):c.4547_4553dup (p.Glu1518fs) rs2548528626
NM_000059.4(BRCA2):c.4593_4594del (p.Lys1531fs) rs2072508654
NM_000059.4(BRCA2):c.4647del (p.Glu1550fs) rs1593902999
NM_000059.4(BRCA2):c.4671_4672del (p.Ser1558fs)
NM_000059.4(BRCA2):c.4673del (p.Ser1558fs)
NM_000059.4(BRCA2):c.4691del (p.Ala1564fs) rs2548529097
NM_000059.4(BRCA2):c.4717_4718insAC (p.Cys1573fs) rs2548529184
NM_000059.4(BRCA2):c.4740dup (p.Glu1581Ter) rs2548529261
NM_000059.4(BRCA2):c.4773_4774del (p.Cys1591_Lys1592delinsTer) rs2548529311
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs) rs2137510225
NM_000059.4(BRCA2):c.4812del (p.Val1605fs) rs2548529372
NM_000059.4(BRCA2):c.4817del (p.Ser1606fs) rs2548529381
NM_000059.4(BRCA2):c.483T>A (p.Cys161Ter) rs397507745
NM_000059.4(BRCA2):c.4847T>A (p.Leu1616Ter)
NM_000059.4(BRCA2):c.4888del (p.Ser1630fs) rs2548529525
NM_000059.4(BRCA2):c.4893_4894del (p.Ser1632fs) rs1555283980
NM_000059.4(BRCA2):c.4952del (p.Pro1651fs) rs397507752
NM_000059.4(BRCA2):c.4962T>A (p.Cys1654Ter) rs1057518638
NM_000059.4(BRCA2):c.5061_5062insCATTACTTCATTACTT (p.Glu1688delinsHisTyrPheIleThrTer) rs2548529908
NM_000059.4(BRCA2):c.5075G>A (p.Trp1692Ter) rs1555284058
NM_000059.4(BRCA2):c.5106del (p.Glu1703fs)
NM_000059.4(BRCA2):c.5150_5226delinsTACTTAATACTTATTAAGTATTA (p.Glu1717_Asn1742delinsValLeuAsnThrTyrTer) rs2137514445
NM_000059.4(BRCA2):c.515_516delinsC (p.Lys172fs)
NM_000059.4(BRCA2):c.516+1G>T rs397507762
NM_000059.4(BRCA2):c.516+2T>G rs397507764
NM_000059.4(BRCA2):c.5227dup (p.Ser1743fs) rs2548530276
NM_000059.4(BRCA2):c.5400C>A (p.Tyr1800Ter) rs780919805
NM_000059.4(BRCA2):c.5447dup (p.Ser1816fs) rs2548530837
NM_000059.4(BRCA2):c.5573_5574del (p.Thr1858fs) rs2548531160
NM_000059.4(BRCA2):c.5622dup (p.Lys1875Ter) rs2137519233
NM_000059.4(BRCA2):c.565dup (p.Asp189fs) rs1555281066
NM_000059.4(BRCA2):c.566_567insG (p.Asp189fs) rs886040603
NM_000059.4(BRCA2):c.5790dup (p.Gln1931fs) rs2072538550
NM_000059.4(BRCA2):c.5811_5812del (p.Gly1938fs) rs886040612
NM_000059.4(BRCA2):c.5826_5827del (p.Val1942_Ser1943insTer) rs1555284412
NM_000059.4(BRCA2):c.5828_5829del (p.Val1942_Ser1943insTer) rs2548531854
NM_000059.4(BRCA2):c.5843del (p.Cys1948fs) rs2548531905
NM_000059.4(BRCA2):c.584C>A (p.Ser195Ter) rs886038053
NM_000059.4(BRCA2):c.5871_5872del (p.Ile1957fs) rs2548531963
NM_000059.4(BRCA2):c.5875_5876delinsTTT (p.Lys1959fs) rs1593906774
NM_000059.4(BRCA2):c.5879_5883del (p.Cys1960fs) rs2548531991
NM_000059.4(BRCA2):c.5949_5962del (p.Lys1984fs) rs2548532186
NM_000059.4(BRCA2):c.5964dup (p.Ser1989fs)
NM_000059.4(BRCA2):c.5985del (p.Asn1995fs) rs2137522955
NM_000059.4(BRCA2):c.6010G>T (p.Glu2004Ter) rs2137523213
NM_000059.4(BRCA2):c.6033_6034insGT (p.Ser2012fs) rs397507824
NM_000059.4(BRCA2):c.6052dup (p.Ser2018fs) rs2548532450
NM_000059.4(BRCA2):c.6103dup (p.Thr2035fs) rs2548532590
NM_000059.4(BRCA2):c.6222_6223dup (p.Lys2075fs) rs2548532824
NM_000059.4(BRCA2):c.6260_6261del (p.Arg2087fs) rs2548532889
NM_000059.4(BRCA2):c.6289dup (p.Thr2097fs) rs2548532975
NM_000059.4(BRCA2):c.6291_6293delinsT (p.Thr2097_Ser2098insTer) rs2548532982
NM_000059.4(BRCA2):c.6294_6295del (p.Arg2099fs)
NM_000059.4(BRCA2):c.6308del (p.Val2102_Ser2103insTer)
NM_000059.4(BRCA2):c.631+2T>A rs81002899
NM_000059.4(BRCA2):c.6344_6345dup (p.His2116fs) rs2548533069
NM_000059.4(BRCA2):c.6407dup (p.Leu2136fs) rs2548533222
NM_000059.4(BRCA2):c.6461_6462del (p.Tyr2154fs) rs2548533378
NM_000059.4(BRCA2):c.6468_6469dup (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6550_6551del (p.Gln2184fs)
NM_000059.4(BRCA2):c.6582del (p.Ile2194fs) rs1566234955
NM_000059.4(BRCA2):c.6609del (p.Pro2204fs)
NM_000059.4(BRCA2):c.6673del (p.Thr2225fs) rs276174875
NM_000059.4(BRCA2):c.6715dup (p.Glu2239fs) rs1555284822
NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs) rs786204279
NM_000059.4(BRCA2):c.6828_6829insTAGAGCCC (p.Leu2277Ter) rs2548534152
NM_000059.4(BRCA2):c.6839_6840insA (p.Glu2282fs) rs1555284866
NM_000059.4(BRCA2):c.6839del (p.Val2280fs) rs2548534216
NM_000059.4(BRCA2):c.6977_6980del (p.Val2325_Ser2326insTer) rs2548537061
NM_000059.4(BRCA2):c.6982G>T (p.Glu2328Ter) rs886038158
NM_000059.4(BRCA2):c.7005del (p.Arg2336fs) rs2072615390
NM_000059.4(BRCA2):c.7005dup (p.Arg2336fs) rs2072615390
NM_000059.4(BRCA2):c.7072_7075delinsCCT (p.Ser2358fs) rs2548540059
NM_000059.4(BRCA2):c.7111dup (p.Ser2371fs) rs2549554387
NM_000059.4(BRCA2):c.712delinsTA (p.Glu238Ter)
NM_000059.4(BRCA2):c.7163del (p.Thr2388fs) rs2548540188
NM_000059.4(BRCA2):c.7178_7179del (p.Met2393fs)
NM_000059.4(BRCA2):c.7187del (p.His2395_Leu2396insTer)
NM_000059.4(BRCA2):c.7252dup (p.Arg2418fs)
NM_000059.4(BRCA2):c.7281del (p.Leu2428fs) rs2548540438
NM_000059.4(BRCA2):c.7356_7375delinsAACAGTTTAAC (p.Asn2452_Lys2459delinsLysThrValTer) rs2548540608
NM_000059.4(BRCA2):c.7433del (p.Pro2477_Leu2478insTer) rs779007406
NM_000059.4(BRCA2):c.7486_7507dup (p.Val2503fs) rs2548541397
NM_000059.4(BRCA2):c.7492A>T (p.Lys2498Ter) rs2548541409
NM_000059.4(BRCA2):c.7500_7501del (p.Gln2501fs) rs2548541422
NM_000059.4(BRCA2):c.754_755del (p.Asp252fs) rs886038056
NM_000059.4(BRCA2):c.7580_7583dup (p.Gly2529fs) rs1555286296
NM_000059.4(BRCA2):c.760G>T (p.Glu254Ter) rs2137462003
NM_000059.4(BRCA2):c.760_761delinsTG (p.Glu254Ter) rs2548518064
NM_000059.4(BRCA2):c.7618-2A>T rs886040940
NM_000059.4(BRCA2):c.7632del (p.Val2545fs) rs2548542445
NM_000059.4(BRCA2):c.7660del (p.Ser2554fs) rs2548542492
NM_000059.4(BRCA2):c.7663A>T (p.Lys2555Ter) rs1566242721
NM_000059.4(BRCA2):c.7690_7691del (p.His2563_Thr2564insTer) rs2548542545
NM_000059.4(BRCA2):c.7711dup (p.Glu2571fs) rs2548542600
NM_000059.4(BRCA2):c.7729_7732del (p.Lys2577fs) rs2548542639
NM_000059.4(BRCA2):c.7803del (p.Phe2600_Tyr2601insTer) rs2548542811
NM_000059.4(BRCA2):c.7806-2A>C rs81002836
NM_000059.4(BRCA2):c.7827dup (p.Val2610fs) rs2548545288
NM_000059.4(BRCA2):c.782del (p.Ala261fs) rs2548518117
NM_000059.4(BRCA2):c.7858_7859del (p.Val2620fs) rs2548545378
NM_000059.4(BRCA2):c.7956_7957del (p.Leu2653fs) rs2548545616
NM_000059.4(BRCA2):c.800del (p.Gly267fs) rs1555281594
NM_000059.4(BRCA2):c.8103del (p.Glu2702fs) rs2498157107
NM_000059.4(BRCA2):c.8111_8118del (p.Thr2703_Ser2704insTer) rs1555287001
NM_000059.4(BRCA2):c.811_824dup (p.Val276fs) rs2548518844
NM_000059.4(BRCA2):c.8154dup (p.Ile2719fs) rs2548546541
NM_000059.4(BRCA2):c.8172del (p.Trp2725fs) rs1566245596
NM_000059.4(BRCA2):c.8185A>T (p.Lys2729Ter) rs2072758358
NM_000059.4(BRCA2):c.8191del (p.Gln2731fs) rs1555287033
NM_000059.4(BRCA2):c.8225_8232del (p.Asn2742fs) rs2548546805
NM_000059.4(BRCA2):c.8295T>A (p.Cys2765Ter) rs886040756
NM_000059.4(BRCA2):c.830dup (p.Asn277fs) rs2137465084
NM_000059.4(BRCA2):c.8370_8371delinsATATACCAGCTGGTATACATATACAAATACCAAGTTTGGT (p.Lys2791fs) rs2548550008
NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer) rs587781689
NM_000059.4(BRCA2):c.8393_8399del (p.Pro2798fs) rs886040769
NM_000059.4(BRCA2):c.8404_8405delinsT (p.Pro2802fs) rs2548550068
NM_000059.4(BRCA2):c.8437_8438insTTTC (p.Gly2813fs) rs2548550133
NM_000059.4(BRCA2):c.8513T>A (p.Leu2838Ter) rs886040779
NM_000059.4(BRCA2):c.8533del (p.Arg2845fs) rs397507990
NM_000059.4(BRCA2):c.8545_8546del (p.Lys2849fs) rs397507991
NM_000059.4(BRCA2):c.8546dup (p.Glu2850fs)
NM_000059.4(BRCA2):c.8559del (p.Lys2853fs) rs2072829506
NM_000059.4(BRCA2):c.8606_8607del (p.Ile2869fs) rs2548550872
NM_000059.4(BRCA2):c.8611del (p.Glu2871fs)
NM_000059.4(BRCA2):c.8658del (p.Ser2887fs)
NM_000059.4(BRCA2):c.8681_8690del (p.Gln2894fs) rs2548553272
NM_000059.4(BRCA2):c.8693T>A (p.Leu2898Ter)
NM_000059.4(BRCA2):c.8696_8712del (p.Gln2899fs) rs2137612961
NM_000059.4(BRCA2):c.8747_8750del (p.Tyr2916fs) rs2548553435
NM_000059.4(BRCA2):c.8755-1_8776dup rs1593936490
NM_000059.4(BRCA2):c.8786del (p.Ala2928_Leu2929insTer)
NM_000059.4(BRCA2):c.8821del (p.Gln2941fs) rs2548555054
NM_000059.4(BRCA2):c.882del (p.Val295fs)
NM_000059.4(BRCA2):c.8881_8882del (p.Gly2961fs) rs2548555180
NM_000059.4(BRCA2):c.8884delinsCC (p.Leu2962fs) rs2548555185
NM_000059.4(BRCA2):c.8894del (p.Asp2965fs)
NM_000059.4(BRCA2):c.8910G>A (p.Trp2970Ter) rs886040799
NM_000059.4(BRCA2):c.8926dup (p.Ser2976fs) rs2548555282
NM_000059.4(BRCA2):c.8929del (p.Tyr2977fs) rs2548555289
NM_000059.4(BRCA2):c.8955del (p.Ile2986fs) rs2548555532
NM_000059.4(BRCA2):c.898_899delinsCTTC (p.Val300fs) rs2548519065
NM_000059.4(BRCA2):c.9017dup (p.Tyr3006Ter) rs886040810
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs) rs2137622994
NM_000059.4(BRCA2):c.9097_9098insG (p.Thr3033fs) rs1555288494
NM_000059.4(BRCA2):c.9182_9184delinsAA (p.Leu3061_Asp3062delinsTer)
NM_000059.4(BRCA2):c.9351del (p.His3117fs) rs2137652993
NM_000059.4(BRCA2):c.9353_9357del (p.Met3118fs) rs2548562206
NM_000059.4(BRCA2):c.9376_9378delinsTAA (p.Gln3126Ter)
NM_000059.4(BRCA2):c.9410_9414del (p.Thr3137fs) rs2548562350
NM_000059.4(BRCA2):c.9519C>A (p.Cys3173Ter) rs2137658819
NM_000059.4(BRCA2):c.9523dup (p.Glu3175fs) rs2548563661
NM_000059.4(BRCA2):c.9605dup (p.Tyr3203fs) rs2548563794
NM_000059.4(BRCA2):c.967del (p.Lys322_Val323insTer) rs2548519226
NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter) rs746413844
NM_000059.4(BRCA2):c.9706A>T (p.Lys3236Ter) rs80359239
NM_000059.4(BRCA2):c.971del (p.Arg324fs) rs2548519238

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