rs80356962

Orientation

minus

Stabilized

minus

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

Make rs80356962(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43047666

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356962
dbSNP (classic)	rs80356962
ClinGen	rs80356962
ebi	rs80356962
HLI	rs80356962
Exac	rs80356962
Gnomad	rs80356962
Varsome	rs80356962
LitVar	rs80356962
Map	rs80356962
PheGenI	rs80356962
Biobank	rs80356962
1000 genomes	rs80356962
hgdp	rs80356962
ensembl	rs80356962
geneview	rs80356962
scholar	rs80356962
google	rs80356962
pharmgkb	rs80356962
gwascentral	rs80356962
openSNP	rs80356962
23andMe	rs80356962
SNPshot	rs80356962
SNPdbe	rs80356962
MSV3d	rs80356962
GWAS Ctlg	rs80356962

Max Magnitude

6

rs80356962, also known as W1815X, c.5444G>A and p.Trp1815Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010017

ClinVar
Risk	rs80356962(A;A)
Alt	rs80356962(A;A)
Reference	Rs80356962(G;G)
Significance	Pathogenic
Disease	not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41199683C>T
CLNSRC	ClinVar
CLNACC	RCV000048996.5, RCV000112656.4, RCV000162887.2, RCV000167788.3, RCV000414344.1,