ClinVar Miner

Variants in gene BRCA1 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 92
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HGVS dbSNP
NM_007294.3(BRCA1):c.134+2del rs273897657
NM_007294.3(BRCA1):c.3668_3671dupTTCC (p.Cys1225Serfs) rs80357797
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4357+6T>C rs80358143
NM_007294.3(BRCA1):c.4986+5G>A rs397509211
NM_007294.3(BRCA1):c.4987-2A>G rs397509212
NM_007294.3(BRCA1):c.5152+5G>A rs80358165
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5406+5G>A rs80358073
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) rs80357783
NM_007294.3(BRCA1):c.80+5G>A rs80358045
NM_007294.3(BRCA1):c.81-9C>G rs80358127
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.139T>C (p.Cys47Arg) rs80357370
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.212+3A>G rs80358083
NM_007294.4(BRCA1):c.243del (p.Gln81fs) rs273899684
NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs) rs273899686
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.4(BRCA1):c.3714_3747del (p.Gln1240fs) rs886038023
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter) rs80357262
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs) rs483353092
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter) rs80356932
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) rs397509171
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter) rs80357229
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter) rs200432771
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
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.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg) rs80357222
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg) rs80357094
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
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.5266C>T (p.Gln1756Ter) rs397509247
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474
NM_007294.4(BRCA1):c.5359T>A (p.Cys1787Ser) rs80357065
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs) rs273902769
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) rs80357368
NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs) rs879255287
NM_007294.4(BRCA1):c.61del (p.Ile21fs) rs273902778
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) rs80357989
NM_007297.4(BRCA1):c.-8+8294A>C rs80358064
Single allele

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