rs80357756

minus

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

Make rs80357756(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092939

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357756
dbSNP (classic)	rs80357756
ClinGen	rs80357756
ebi	rs80357756
HLI	rs80357756
Exac	rs80357756
Gnomad	rs80357756
Varsome	rs80357756
LitVar	rs80357756
Map	rs80357756
PheGenI	rs80357756
Biobank	rs80357756
1000 genomes	rs80357756
hgdp	rs80357756
ensembl	rs80357756
geneview	rs80357756
scholar	rs80357756
google	rs80357756
pharmgkb	rs80357756
gwascentral	rs80357756
openSNP	rs80357756
23andMe	rs80357756
SNPshot	rs80357756
SNPdbe	rs80357756
MSV3d	rs80357756
GWAS Ctlg	rs80357756

Merged from

Rs397508984

Max Magnitude

6

rs80357756, also known as 2711delA, c.2592_2592delA and p.Ser864=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357756(-;-)
Alt	rs80357756(-;-)
Reference	Rs80357756(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244954delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047891.3, RCV000077523.4,