rs80356885

Orientation

minus

Stabilized

minus

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

Make rs80356885(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43074482

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356885
dbSNP (classic)	rs80356885
ClinGen	rs80356885
ebi	rs80356885
HLI	rs80356885
Exac	rs80356885
Gnomad	rs80356885
Varsome	rs80356885
LitVar	rs80356885
Map	rs80356885
PheGenI	rs80356885
Biobank	rs80356885
1000 genomes	rs80356885
hgdp	rs80356885
ensembl	rs80356885
geneview	rs80356885
scholar	rs80356885
google	rs80356885
pharmgkb	rs80356885
gwascentral	rs80356885
openSNP	rs80356885
23andMe	rs80356885
SNPshot	rs80356885
SNPdbe	rs80356885
MSV3d	rs80356885
GWAS Ctlg	rs80356885

Max Magnitude

6

rs80356885, also known as W1508X, c.4524G>A and p.Trp1508Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356885(A;A)
Alt	rs80356885(A;A)
Reference	Rs80356885(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41226499C>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000048586.5, RCV000077575.6, RCV000129129.3, RCV000236102.2,