rs80356974

Orientation

minus

Stabilized

minus

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

Make rs80356974(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063917

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356974
dbSNP (classic)	rs80356974
ClinGen	rs80356974
ebi	rs80356974
HLI	rs80356974
Exac	rs80356974
Gnomad	rs80356974
Varsome	rs80356974
LitVar	rs80356974
Map	rs80356974
PheGenI	rs80356974
Biobank	rs80356974
1000 genomes	rs80356974
hgdp	rs80356974
ensembl	rs80356974
geneview	rs80356974
scholar	rs80356974
google	rs80356974
pharmgkb	rs80356974
gwascentral	rs80356974
openSNP	rs80356974
23andMe	rs80356974
SNPshot	rs80356974
SNPdbe	rs80356974
MSV3d	rs80356974
GWAS Ctlg	rs80356974

Max Magnitude

6

rs80356974, also known as Y1703X, c.5109T>G and p.Tyr1703Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356974(C;C) rs80356974(G;G)
Alt	rs80356974(C;C) rs80356974(G;G)
Reference	Rs80356974(T;T)
Significance	Pathogenic
Disease	not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41215934A>C; NC_000017.10:g.41215934A>G
CLNSRC	ClinVar
CLNACC	RCV000048797.7, RCV000077597.5, RCV000162883.2, RCV000195365.3, RCV000226733.1,