rs80357688

minus

Geno	Mag	Summary
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer
(-;AA)	6	BRCA1 variant considered pathogenic for breast cancer
(A;A)	0	common in clinvar

Make rs80357688(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093460

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357688
dbSNP (classic)	rs80357688
ClinGen	rs80357688
ebi	rs80357688
HLI	rs80357688
Exac	rs80357688
Gnomad	rs80357688
Varsome	rs80357688
LitVar	rs80357688
Map	rs80357688
PheGenI	rs80357688
Biobank	rs80357688
1000 genomes	rs80357688
hgdp	rs80357688
ensembl	rs80357688
geneview	rs80357688
scholar	rs80357688
google	rs80357688
pharmgkb	rs80357688
gwascentral	rs80357688
openSNP	rs80357688
23andMe	rs80357688
SNPshot	rs80357688
SNPdbe	rs80357688
MSV3d	rs80357688
GWAS Ctlg	rs80357688

Merged from

Rs80357733

Max Magnitude

6

rs80357688, also known as 2190delA, c.2071_2071delA and p.Arg691Aspfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357688(-;-)
Alt	rs80357688(-;-)
Reference	Rs80357688(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41245477delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031025.9, RCV000047699.6, RCV000131404.3, RCV000167861.4,