rs80357131

Orientation

minus

Stabilized

minus

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

Make rs80357131(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092968

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357131
dbSNP (classic)	rs80357131
ClinGen	rs80357131
ebi	rs80357131
HLI	rs80357131
Exac	rs80357131
Gnomad	rs80357131
Varsome	rs80357131
LitVar	rs80357131
Map	rs80357131
PheGenI	rs80357131
Biobank	rs80357131
1000 genomes	rs80357131
hgdp	rs80357131
ensembl	rs80357131
geneview	rs80357131
scholar	rs80357131
google	rs80357131
pharmgkb	rs80357131
gwascentral	rs80357131
openSNP	rs80357131
23andMe	rs80357131
SNPshot	rs80357131
SNPdbe	rs80357131
MSV3d	rs80357131
GWAS Ctlg	rs80357131

Max Magnitude

6

rs80357131, also known as Q855X, c.2563C>T and p.Gln855Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010209

ClinVar
Risk	rs80357131(T;T)
Alt	rs80357131(T;T)
Reference	Rs80357131(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.41244985G>A
CLNSRC	ClinVar
CLNACC	RCV000031056.7, RCV000047880.3, RCV000223464.1,