ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic for breast-ovarian cancer, familial, susceptibility to, 1

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5332+4A>G rs80358166 0.00002
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717 0.00001
NM_007294.4(BRCA1):c.4185+4105C>T rs1597853155 0.00001
NM_007294.4(BRCA1):c.442-1G>T rs1351019392 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474 0.00001
NM_007294.4(BRCA1):c.5467+1G>A rs80358145 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
GRCh37/hg19 17q21.31(chr17:41199581-41231493)x4
GRCh37/hg19 17q21.31(chr17:41251742-41267846)x3
NC_000017.10:g.(41228632_41234420)_(41234593_41242960)dup
NG_005905.2:g.(111529_113027)_(147057_150288)del
NG_005905.2:g.(141497_143462)_(154111_154610)dup
NG_005905.2:g.(92714_93868)_(173690_?)del
NM_007294.3(BRCA1):c.5543_5545delAGGins43 (p.?)
NM_007294.3(BRCA1):c.[-1A>G;3G>A]
NM_007294.4(BRCA1):c.1015A>T (p.Lys339Ter) rs55842957
NM_007294.4(BRCA1):c.104T>C (p.Val35Ala) rs1235706456
NM_007294.4(BRCA1):c.109A>G (p.Thr37Ala) rs2055253295
NM_007294.4(BRCA1):c.1119_1120insCTGA (p.Thr374fs) rs2154475092
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.4(BRCA1):c.1194dup (p.His399fs) rs1555592264
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr) rs1060502353
NM_007294.4(BRCA1):c.121dup (p.His41fs) rs1555599226
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.134+2T>G rs80358131
NM_007294.4(BRCA1):c.134+3A>T rs80358064
NM_007294.4(BRCA1):c.134+5G>A rs80358038
NM_007294.4(BRCA1):c.134+5G>C rs80358038
NM_007294.4(BRCA1):c.134+5G>T rs80358038
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs) rs1555591850
NM_007294.4(BRCA1):c.139dup (p.Cys47fs) rs80357734
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.1485del (p.Glu495fs) rs1555591703
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs) rs876659139
NM_007294.4(BRCA1):c.166_169del (p.Lys56fs) rs2154555258
NM_007294.4(BRCA1):c.1687del (p.Gln563fs)
NM_007294.4(BRCA1):c.1728_1731del (p.Lys576fs) rs2154427544
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs) rs397508912
NM_007294.4(BRCA1):c.190T>A (p.Cys64Ser) rs80357064
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter) rs878854935
NM_007294.4(BRCA1):c.1929_1930delinsA (p.Ser643fs) rs886039982
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.4(BRCA1):c.1967_1985del (p.Asn656fs)
NM_007294.4(BRCA1):c.1978del (p.Val660fs) rs886039988
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter) rs863224510
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter) rs80357298
NM_007294.4(BRCA1):c.213-5T>A rs886038196
NM_007294.4(BRCA1):c.2131A>T (p.Lys711Ter)
NM_007294.4(BRCA1):c.2133del (p.Lys711fs)
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.4(BRCA1):c.2235dup (p.Asp746fs) rs2053797991
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs) rs431825390
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter) rs55914168
NM_007294.4(BRCA1):c.2405dup (p.Ser803fs)
NM_007294.4(BRCA1):c.2569_2570del (p.Leu857fs)
NM_007294.4(BRCA1):c.2630del (p.Asn877fs) rs886038002
NM_007294.4(BRCA1):c.2632_2653del (p.Ala878fs)
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2817del (p.Asp940fs)
NM_007294.4(BRCA1):c.2844_2845del (p.Gly949fs)
NM_007294.4(BRCA1):c.287A>C (p.Asp96Ala) rs864622444
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs) rs878854940
NM_007294.4(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.4(BRCA1):c.2930del (p.Pro977fs)
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr) rs80357111
NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter) rs886038007
NM_007294.4(BRCA1):c.302-3C>G rs80358051
NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs) rs1064794177
NM_007294.4(BRCA1):c.315T>G (p.Tyr105Ter) rs2054639807
NM_007294.4(BRCA1):c.346del (p.Glu116fs) rs762635795
NM_007294.4(BRCA1):c.38_39delinsGGG (p.Asn13fs) rs1567823382
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter) rs879255485
NM_007294.4(BRCA1):c.4106_4110delinsATC (p.Ala1369fs)
NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter) rs1057517574
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4185_4185+1del
NM_007294.4(BRCA1):c.4192del (p.Asp1398fs)
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr) rs273900729
NM_007294.4(BRCA1):c.4321del (p.Asp1441fs) rs80357748
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4356del (p.Ala1453fs) rs1567782959
NM_007294.4(BRCA1):c.4356dup (p.Ala1453fs) rs1567782959
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs) rs786204267
NM_007294.4(BRCA1):c.442-2A>G rs80358155
NM_007294.4(BRCA1):c.442-7T>A rs886040909
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter) rs876659614
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484+5G>A rs886040910
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4511T>G (p.Leu1504Ter)
NM_007294.4(BRCA1):c.4533_4534insT (p.Ser1512Ter)
NM_007294.4(BRCA1):c.4568del (p.Pro1523fs) rs1567778075
NM_007294.4(BRCA1):c.4645_4646dup (p.Thr1550fs) rs2153992821
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.4(BRCA1):c.4658del (p.Leu1553fs) rs2052588740
NM_007294.4(BRCA1):c.4675+2T>G rs879255293
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4676-1G>C rs80358008
NM_007294.4(BRCA1):c.4810del (p.Gln1604fs) rs1555580900
NM_007294.4(BRCA1):c.4821del (p.Ala1608fs) rs2153836342
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs) rs730880287
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter) rs1173155015
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-16T>G
NM_007294.4(BRCA1):c.4987-1G>A rs730881495
NM_007294.4(BRCA1):c.4988T>G (p.Met1663Arg) rs80357205
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.503_505delinsT (p.Lys168fs)
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs) rs879255283
NM_007294.4(BRCA1):c.5054_5057dup (p.Val1687fs) rs879254050
NM_007294.4(BRCA1):c.5056C>G (p.His1686Asp) rs1555579648
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5073A>T (p.Thr1691=) rs80356853
NM_007294.4(BRCA1):c.5074+1G>T rs80358053
NM_007294.4(BRCA1):c.5074+1del rs1597825560
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5075-3C>G rs398122690
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala) rs397509222
NM_007294.4(BRCA1):c.5076T>A (p.Asp1692Glu) rs2051937547
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs) rs80357710
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) rs41293459
NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu) rs41293459
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp) rs863224763
NM_007294.4(BRCA1):c.5111T>A (p.Phe1704Tyr) rs1555578598
NM_007294.4(BRCA1):c.5111T>C (p.Phe1704Ser) rs1555578598
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5131A>G (p.Lys1711Glu) rs886040272
NM_007294.4(BRCA1):c.5133del (p.Lys1711fs) rs730880288
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.4(BRCA1):c.5152+2dup rs397509231
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5152+5G>C rs80358165
NM_007294.4(BRCA1):c.5152+6T>C rs80358074
NM_007294.4(BRCA1):c.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5156del (p.Val1719fs) rs1057517590
NM_007294.4(BRCA1):c.5161del (p.Gln1721fs) rs2051868691
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) rs80357104
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5186del (p.Leu1729fs) rs398122692
NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter) rs397507244
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile) rs80356957
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu) rs869320780
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr) rs80357283
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5219_5224del (p.Val1740_Asn1742delinsAsp) rs1555576941
NM_007294.4(BRCA1):c.5227G>A (p.Gly1743Arg) rs2051517323
NM_007294.4(BRCA1):c.5240A>C (p.Gln1747Pro) rs2051510661
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg) rs397507245
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5300G>T (p.Cys1767Phe) rs1597804426
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs) rs886040289
NM_007294.4(BRCA1):c.5306dup (p.Tyr1769Ter) rs2153070428
NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter) rs397509258
NM_007294.4(BRCA1):c.5307_5308insCACCAACATGCCCTTCACCT (p.Gly1770fs) rs2153069688
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs) rs587781825
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.5327_5328dup (p.Thr1777fs)
NM_007294.4(BRCA1):c.5333-1G>A rs80358126
NM_007294.4(BRCA1):c.5333-2A>T rs397509264
NM_007294.4(BRCA1):c.5333-6T>G rs397509266
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys) rs397509271
NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala) rs80357069
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.53T>G (p.Met18Arg) rs80356929
NM_007294.4(BRCA1):c.5406+2T>G rs2051071309
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg) rs80357040
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5440dup (p.Ala1814fs) rs1057517637
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr) rs80357212
NM_007294.4(BRCA1):c.5468-2A>G rs398122699
NM_007294.4(BRCA1):c.547+1G>A rs80358030
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs) rs397509291
NM_007294.4(BRCA1):c.5503C>G (p.Arg1835Gly) rs41293465
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.5534_5539delinsCCAGTGCCAGGACAGCAGG (p.Tyr1845fs) rs483353102
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter) rs397509295
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs) rs886040305
NM_007294.4(BRCA1):c.5557del (p.Tyr1853fs)
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.5578del (p.His1860fs) rs397507254
NM_007294.4(BRCA1):c.5578dup (p.His1860fs) rs397507254
NM_007294.4(BRCA1):c.593+1G>A rs1567804153
NM_007294.4(BRCA1):c.593+4del rs1555594036
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.670+1G>A
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr) rs431825419
NM_007294.4(BRCA1):c.671-1G>A rs80358020
NM_007294.4(BRCA1):c.672del (p.Ala225fs) rs2154500888
NM_007294.4(BRCA1):c.67_72del (p.Glu23_Cys24del)
NM_007294.4(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.715del (p.His239fs) rs879255294
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.80+5G>A rs80358045
NM_007294.4(BRCA1):c.83del (p.Leu28fs) rs1555599281
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter) rs730881468
NM_007294.4(BRCA1):c.915dup (p.Asn306Ter) rs2154485546
NP_009225.1(BRCA1):p.Trp1837Arg

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