ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs) rs1162394508 0.00001
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NC_000013.10:g.(32921034_32928997)_(32945238_32950806)dup
NC_000013.10:g.(32921034_32928997)_(32954283_32968825)dup
NC_000013.10:g.(32937671_32944538)_(32944695_32945092)del
NC_000013.10:g.(32937671_32944538)_(32945238_32950806)dup
NC_000013.11:g.(32357930_32362522)_(32376792_32379316)del
NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs) rs1566232310
NM_000059.4(BRCA2):c.1179T>A (p.Cys393Ter) rs786201237
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter) rs80358413
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter) rs781079248
NM_000059.4(BRCA2):c.1233del (p.Leu413fs) rs2072407210
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs) rs483353112
NM_000059.4(BRCA2):c.1379del (p.Asn460fs) rs1064793945
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter) rs1555281911
NM_000059.4(BRCA2):c.1478del (p.Pro493fs) rs2072414250
NM_000059.4(BRCA2):c.1481del (p.Val494fs)
NM_000059.4(BRCA2):c.1593del (p.Glu532fs) rs397507272
NM_000059.4(BRCA2):c.1648G>T (p.Glu550Ter) rs1555281999
NM_000059.4(BRCA2):c.1712del (p.Ser571fs) rs2137474153
NM_000059.4(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.4(BRCA2):c.1792dup (p.Thr598fs) rs886040389
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer) rs587779358
NM_000059.4(BRCA2):c.1841_1842dup (p.Asn615fs) rs80359312
NM_000059.4(BRCA2):c.1846del (p.Cys616fs) rs1566224496
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter) rs397507278
NM_000059.4(BRCA2):c.1910-1G>T rs1566225769
NM_000059.4(BRCA2):c.2106del (p.Thr703fs) rs2072450488
NM_000059.4(BRCA2):c.2176del (p.Val726fs) rs1555282499
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs) rs398122744
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter) rs773356478
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs) rs397507291
NM_000059.4(BRCA2):c.2687_2688insGA (p.Asn896fs) rs1555282795
NM_000059.4(BRCA2):c.2731del (p.Glu911fs) rs80359344
NM_000059.4(BRCA2):c.2886_3114del (p.Ile963fs) rs2072467292
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs) rs2072467220
NM_000059.4(BRCA2):c.2989_2990del (p.Leu997fs) rs1555282990
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer) rs876661270
NM_000059.4(BRCA2):c.3061del (p.Glu1021fs) rs2072471318
NM_000059.4(BRCA2):c.3069del (p.Asn1023fs) rs876658555
NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs) rs1057517566
NM_000059.4(BRCA2):c.3086dup (p.Met1029fs) rs2072472083
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer) rs1555283051
NM_000059.4(BRCA2):c.3189del (p.Gln1063fs)
NM_000059.4(BRCA2):c.3211_3212dup (p.Leu1072fs) rs2137494347
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs) rs80359382
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter) rs1555283209
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter) rs1237049560
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs) rs878853569
NM_000059.4(BRCA2):c.3649del (p.Arg1217fs) rs864622134
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter) rs1555283366
NM_000059.4(BRCA2):c.3719dup (p.Phe1241fs) rs2137499319
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs) rs1555283381
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter) rs1555280859
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter) rs1555283442
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs) rs397507698
NM_000059.4(BRCA2):c.3935dup (p.Asn1312fs) rs1566229411
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs) rs1566229421
NM_000059.4(BRCA2):c.3968_3971del (p.Lys1323fs) rs886040505
NM_000059.4(BRCA2):c.3972T>G (p.Tyr1324Ter) rs1131692119
NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer) rs1566218217
NM_000059.4(BRCA2):c.4057del (p.Glu1353fs) rs2072494571
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs) rs876658329
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs) rs80359435
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter) rs1555283664
NM_000059.4(BRCA2):c.4270dup (p.Ser1424fs) rs1555283672
NM_000059.4(BRCA2):c.4305_4309del (p.Asn1435fs) rs1566230041
NM_000059.4(BRCA2):c.4312_4313dup (p.Ala1439fs) rs1064794168
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter) rs876659758
NM_000059.4(BRCA2):c.452dup (p.Thr152fs) rs2072343917
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs) rs1057517565
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter) rs1555283865
NM_000059.4(BRCA2):c.4632_4636del (p.Asn1544_Leu1545insTer) rs2137508514
NM_000059.4(BRCA2):c.475+4del rs276174848
NM_000059.4(BRCA2):c.476-4_476-1delinsT rs587782880
NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter) rs1566231194
NM_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs) rs397507748
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter) rs1566231364
NM_000059.4(BRCA2):c.517-2A>T rs81002858
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs) rs1555284103
NM_000059.4(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs) rs483353082
NM_000059.4(BRCA2):c.534del (p.Lys178fs) rs1191198388
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs) rs587781849
NM_000059.4(BRCA2):c.5613del (p.Ser1871fs) rs2072533506
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs) rs886040602
NM_000059.4(BRCA2):c.6045del (p.Leu2015fs) rs2072544996
NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter) rs1555284559
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs) rs1566234047
NM_000059.4(BRCA2):c.6226del (p.Val2076fs) rs2072549559
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.4(BRCA2):c.632-1dup rs1566220586
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.4(BRCA2):c.6415_6426delinsTGTTTAGTTAG (p.Glu2139fs) rs2072554847
NM_000059.4(BRCA2):c.6437_6440dup (p.His2147fs) rs397507855
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter) rs398122559
NM_000059.4(BRCA2):c.6516del (p.Val2174fs) rs2072558268
NM_000059.4(BRCA2):c.6547_6550del (p.Glu2183fs) rs2072559281
NM_000059.4(BRCA2):c.6626_6627dup (p.Glu2210Ter) rs80359610
NM_000059.4(BRCA2):c.6762del (p.Phe2254fs) rs80359624
NM_000059.4(BRCA2):c.68-2A>G rs769152395
NM_000059.4(BRCA2):c.681+2dup rs587781486
NM_000059.4(BRCA2):c.6865_6866del (p.Leu2289fs) rs2137536911
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter) rs1555285146
NM_000059.4(BRCA2):c.6922A>T (p.Lys2308Ter)
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.6976del (p.Ser2326fs) rs886040679
NM_000059.4(BRCA2):c.6986_6990del (p.Pro2329fs) rs1064795172
NM_000059.4(BRCA2):c.6999dup (p.Pro2334fs) rs1566237861
NM_000059.4(BRCA2):c.7007+1G>T rs397507891
NM_000059.4(BRCA2):c.707del (p.His236fs) rs2072385245
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs) rs786202600
NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs) rs80359638
NM_000059.4(BRCA2):c.7147del (p.Tyr2383fs) rs878853599
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs) rs878853599
NM_000059.4(BRCA2):c.7171G>T (p.Glu2391Ter)
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs) rs1555286031
NM_000059.4(BRCA2):c.718_719del (p.Leu240fs) rs1555281459
NM_000059.4(BRCA2):c.7270dup (p.Arg2424fs) rs2072681595
NM_000059.4(BRCA2):c.7274del (p.Asn2425fs) rs1566241084
NM_000059.4(BRCA2):c.7317del (p.His2440fs) rs2072682479
NM_000059.4(BRCA2):c.7403dup (p.Thr2469fs) rs1555286105
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs) rs80359650
NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter) rs1555286120
NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter) rs1566241336
NM_000059.4(BRCA2):c.7436-1G>T rs886040939
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.4(BRCA2):c.7568dup (p.Lys2524fs) rs1566242125
NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter) rs1555286291
NM_000059.4(BRCA2):c.7622_7629dup (p.Gly2544fs) rs2137566082
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs) rs2137567005
NM_000059.4(BRCA2):c.7745_7751dup (p.Gly2584_Gly2585insTer) rs1593920945
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter) rs863224468
NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs) rs2137577594
NM_000059.4(BRCA2):c.794-2A>G rs1566222053
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter) rs786202796
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.4(BRCA2):c.8099del (p.Ile2700fs) rs2137580749
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser) rs56371528
NM_000059.4(BRCA2):c.8331+2T>G rs398122602
NM_000059.4(BRCA2):c.8332-1G>T rs397507979
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs) rs80359712
NM_000059.4(BRCA2):c.8611G>T (p.Glu2871Ter) rs587782860
NM_000059.4(BRCA2):c.8632+2T>G rs397507998
NM_000059.4(BRCA2):c.866del (p.Asn289fs) rs2072398949
NM_000059.4(BRCA2):c.8754+4A>T rs81002893
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs) rs1555288386
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter) rs879255298
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs) rs1593936840
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs) rs2137622994
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs) rs397507419
NM_000059.4(BRCA2):c.9191del (p.Asp3064fs) rs2137625213
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly) rs80359182
NM_000059.4(BRCA2):c.9212dup (p.Val3072fs) rs1555288557
NM_000059.4(BRCA2):c.9254del (p.Thr3085fs) rs1555288587
NM_000059.4(BRCA2):c.9256_9256+1delinsTA rs587781422
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs) rs778782209
NM_000059.4(BRCA2):c.9465_9466insTGAT (p.Gln3156Ter) rs1555289602
NM_000059.4(BRCA2):c.9501+1G>T rs397508058
NM_000059.4(BRCA2):c.958del (p.Leu320fs)
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000059.4(BRCA2):c.9766_9770del (p.Glu3256fs) rs1555289953
NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs) rs1566260997
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251

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