rs80357509

minus

Geno	Mag	Summary
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer
(A;A)	0	Normal

Make rs80357509(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092046

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357509
dbSNP (classic)	rs80357509
ClinGen	rs80357509
ebi	rs80357509
HLI	rs80357509
Exac	rs80357509
Gnomad	rs80357509
Varsome	rs80357509
LitVar	rs80357509
Map	rs80357509
PheGenI	rs80357509
Biobank	rs80357509
1000 genomes	rs80357509
hgdp	rs80357509
ensembl	rs80357509
geneview	rs80357509
scholar	rs80357509
google	rs80357509
pharmgkb	rs80357509
gwascentral	rs80357509
openSNP	rs80357509
23andMe	rs80357509
SNPshot	rs80357509
SNPdbe	rs80357509
MSV3d	rs80357509
GWAS Ctlg	rs80357509

Max Magnitude

6

rs80357509, also known as c.3485delA, 3604delA, c.3485_3485delA and p.Asp1162Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357509(-;-)
Alt	rs80357509(-;-)
Reference	Rs80357509(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41244063delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031112.7, RCV000048213.5, RCV000159918.2, RCV000220121.1, RCV000408844.1,