rs276174913

Orientation

plus

Stabilized

plus

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

Make rs276174913(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32379431

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs276174913
dbSNP (classic)	rs276174913
ClinGen	rs276174913
ebi	rs276174913
HLI	rs276174913
Exac	rs276174913
Gnomad	rs276174913
Varsome	rs276174913
LitVar	rs276174913
Map	rs276174913
PheGenI	rs276174913
Biobank	rs276174913
1000 genomes	rs276174913
hgdp	rs276174913
ensembl	rs276174913
geneview	rs276174913
scholar	rs276174913
google	rs276174913
pharmgkb	rs276174913
gwascentral	rs276174913
openSNP	rs276174913
23andMe	rs276174913
SNPshot	rs276174913
SNPdbe	rs276174913
MSV3d	rs276174913
GWAS Ctlg	rs276174913

Max Magnitude

6

rs276174913, also known as Q2957X, c.8869C>T and p.Gln2957Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs276174913(T;T)
Alt	rs276174913(T;T)
Reference	Rs276174913(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32953568C>T
CLNSRC	ClinVar
CLNACC	RCV000031773.6, RCV000045645.2,