rs80359133

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	6	BRCA2 variant considered pathogenic for breast cancer

Make rs80359133(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32379332

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359133
dbSNP (classic)	rs80359133
ClinGen	rs80359133
ebi	rs80359133
HLI	rs80359133
Exac	rs80359133
Gnomad	rs80359133
Varsome	rs80359133
LitVar	rs80359133
Map	rs80359133
PheGenI	rs80359133
Biobank	rs80359133
1000 genomes	rs80359133
hgdp	rs80359133
ensembl	rs80359133
geneview	rs80359133
scholar	rs80359133
google	rs80359133
pharmgkb	rs80359133
gwascentral	rs80359133
openSNP	rs80359133
23andMe	rs80359133
SNPshot	rs80359133
SNPdbe	rs80359133
MSV3d	rs80359133
GWAS Ctlg	rs80359133

Max Magnitude

6

rs80359133, also known as E2924X, c.8770G>T and p.Glu2924Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359133(T;T)
Alt	rs80359133(T;T)
Reference	Rs80359133(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32953469G>T
CLNSRC	ClinVar
CLNACC	RCV000045624.3, RCV000083149.5,