rs80357251

Orientation

minus

Stabilized

minus

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

Make rs80357251(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092896

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357251
dbSNP (classic)	rs80357251
ClinGen	rs80357251
ebi	rs80357251
HLI	rs80357251
Exac	rs80357251
Gnomad	rs80357251
Varsome	rs80357251
LitVar	rs80357251
Map	rs80357251
PheGenI	rs80357251
Biobank	rs80357251
1000 genomes	rs80357251
hgdp	rs80357251
ensembl	rs80357251
geneview	rs80357251
scholar	rs80357251
google	rs80357251
pharmgkb	rs80357251
gwascentral	rs80357251
openSNP	rs80357251
23andMe	rs80357251
SNPshot	rs80357251
SNPdbe	rs80357251
MSV3d	rs80357251
GWAS Ctlg	rs80357251

Max Magnitude

6

rs80357251, also known as E879X, c.2635G>T and p.Glu879X, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010203

ClinVar
Risk	rs80357251(A;A) rs80357251(T;T)
Alt	rs80357251(A;A) rs80357251(T;T)
Reference	Rs80357251(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41244913C>A; NC_000017.10:g.41244913C>T
CLNSRC	ClinVar
CLNACC	RCV000031059.6, RCV000047906.4, RCV000235968.1, RCV000047905.2, RCV000111907.1,