rs80357346

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	3	Likely miscall if from Ancestry data; otherwise, BRCA1 mutation
(G;T)	6	BRCA1 variant considered pathogenic for breast cancer
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094239

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357346
dbSNP (classic)	rs80357346
ClinGen	rs80357346
ebi	rs80357346
HLI	rs80357346
Exac	rs80357346
Gnomad	rs80357346
Varsome	rs80357346
LitVar	rs80357346
Map	rs80357346
PheGenI	rs80357346
Biobank	rs80357346
1000 genomes	rs80357346
hgdp	rs80357346
ensembl	rs80357346
geneview	rs80357346
scholar	rs80357346
google	rs80357346
pharmgkb	rs80357346
gwascentral	rs80357346
openSNP	rs80357346
23andMe	rs80357346
SNPshot	rs80357346
SNPdbe	rs80357346
MSV3d	rs80357346
GWAS Ctlg	rs80357346

Max Magnitude

6

rs80357346, also known as L431X, c.1292T>G and p.Leu431Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80357346(G;G)
Alt	Rs80357346(G;G)
Reference	Rs80357346(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246256A>C
CLNSRC	ClinVar
CLNACC	RCV000047405.2, RCV000111583.3,