rs80358538

Orientation

plus

Stabilized

plus

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

Make rs80358538(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32337236

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358538
dbSNP (classic)	rs80358538
ClinGen	rs80358538
ebi	rs80358538
HLI	rs80358538
Exac	rs80358538
Gnomad	rs80358538
Varsome	rs80358538
LitVar	rs80358538
Map	rs80358538
PheGenI	rs80358538
Biobank	rs80358538
1000 genomes	rs80358538
hgdp	rs80358538
ensembl	rs80358538
geneview	rs80358538
scholar	rs80358538
google	rs80358538
pharmgkb	rs80358538
gwascentral	rs80358538
openSNP	rs80358538
23andMe	rs80358538
SNPshot	rs80358538
SNPdbe	rs80358538
MSV3d	rs80358538
GWAS Ctlg	rs80358538

Max Magnitude

6

rs80358538, also known as Q961X, c.2881C>T and p.Gln961Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358538(G;G) rs80358538(T;T)
Alt	rs80358538(G;G) rs80358538(T;T)
Reference	Rs80358538(C;C)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32911373C>G; NC_000013.10:g.32911373C>T
CLNSRC	ClinVar
CLNACC	RCV000164804.1, RCV000044080.2, RCV000077288.5,