rs80356888

Orientation

minus

Stabilized

minus

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

Make rs80356888(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43104173

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356888
dbSNP (classic)	rs80356888
ClinGen	rs80356888
ebi	rs80356888
HLI	rs80356888
Exac	rs80356888
Gnomad	rs80356888
Varsome	rs80356888
LitVar	rs80356888
Map	rs80356888
PheGenI	rs80356888
Biobank	rs80356888
1000 genomes	rs80356888
hgdp	rs80356888
ensembl	rs80356888
geneview	rs80356888
scholar	rs80356888
google	rs80356888
pharmgkb	rs80356888
gwascentral	rs80356888
openSNP	rs80356888
23andMe	rs80356888
SNPshot	rs80356888
SNPdbe	rs80356888
MSV3d	rs80356888
GWAS Ctlg	rs80356888

GMAF

0.0004591

Max Magnitude

6

rs80356888, also known as Y130X, c.390C>A and p.Tyr130Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name for the C>A variant: i5010306

ClinVar
Risk	rs80356888(A;A) rs80356888(G;G) rs80356888(T;T)
Alt	rs80356888(A;A) rs80356888(G;G) rs80356888(T;T)
Reference	Rs80356888(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41256190G>C; NC_000017.10:g.41256190G>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000241078.2, RCV000048376.3, RCV000112439.3, RCV000131881.2,