ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic for Neoplasm of ovary

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134 0.00001
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.3(BRCA1):c.(134+1_135-1)_(547+1_548-1)del
NM_007294.3(BRCA1):c.(441+1_442-1)_(547+1_548-1)del
NM_007294.3(BRCA1):c.(5074+1_5075-1)_(5193+1_5194-1)del
NM_007294.3(BRCA1):c.(5467+1_5468-1)_(*1_?)del
NM_007294.3(BRCA1):c.(547+1_548+1)_(4185+1_4186-1)del
NM_007294.3(BRCA1):c.(80+1_81-1)_(5193+1_5194-1)del
NM_007294.3:c.(?_-233)_(134+1_135-1)del
NM_007294.3:c.(?_-233)_(441+1_442-1)del
NM_007294.3:c.(?_-233)_(5074+1_5075-1)del
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter) rs80357468
NM_007294.4(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.4(BRCA1):c.1193C>G (p.Ser398Ter) rs80357068
NM_007294.4(BRCA1):c.1214C>A (p.Ser405Ter) rs80357481
NM_007294.4(BRCA1):c.1271_1301dup (p.Ser434fs) rs1567800087
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.4(BRCA1):c.1855del (p.His619fs) rs1567798003
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs) rs80357516
NM_007294.4(BRCA1):c.1902dup (p.Asn635Ter) rs1567797787
NM_007294.4(BRCA1):c.1920_1939del (p.Gln640_Ile641insTer) rs1567797661
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.212G>C (p.Arg71Thr) rs80356913
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2209del (p.Thr737fs) rs1060502333
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2515del (p.His839fs) rs80357607
NM_007294.4(BRCA1):c.2670del (p.Ser891fs) rs80357659
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.3096del (p.Glu1033fs) rs1567792938
NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter) rs80357841
NM_007294.4(BRCA1):c.342del (p.Pro115fs) rs886040129
NM_007294.4(BRCA1):c.346G>T (p.Glu116Ter) rs397509071
NM_007294.4(BRCA1):c.397del (p.Arg133fs) rs886037973
NM_007294.4(BRCA1):c.4210del (p.Asn1403_Leu1404insTer) rs80357765
NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter) rs80356953
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs) rs80357534
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs) rs80357833
NM_007294.4(BRCA1):c.4936del (p.Val1646fs) rs80357653
NM_007294.4(BRCA1):c.4945del (p.Arg1649fs) rs80357655
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs) rs80357760
NM_007294.4(BRCA1):c.5152+2T>G rs886040914
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.907del (p.Glu303fs) rs1567801576

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.