rs80359140

Orientation

plus

Stabilized

plus

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

Make rs80359140(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32379440

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359140
dbSNP (classic)	rs80359140
ClinGen	rs80359140
ebi	rs80359140
HLI	rs80359140
Exac	rs80359140
Gnomad	rs80359140
Varsome	rs80359140
LitVar	rs80359140
Map	rs80359140
PheGenI	rs80359140
Biobank	rs80359140
1000 genomes	rs80359140
hgdp	rs80359140
ensembl	rs80359140
geneview	rs80359140
scholar	rs80359140
google	rs80359140
pharmgkb	rs80359140
gwascentral	rs80359140
openSNP	rs80359140
23andMe	rs80359140
SNPshot	rs80359140
SNPdbe	rs80359140
MSV3d	rs80359140
GWAS Ctlg	rs80359140

Max Magnitude

6

rs80359140, also known as Q2960X, c.8878C>T and p.Gln2960Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359140(T;T)
Alt	rs80359140(T;T)
Reference	Rs80359140(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32953577C>T
CLNSRC	ClinVar
CLNACC	RCV000045646.3, RCV000077455.5, RCV000162940.2, RCV000223154.1,