rs80359058

Orientation

plus

Stabilized

plus

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

Make rs80359058(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32363342

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359058
ClinGen	rs80359058
ebi	rs80359058
HLI	rs80359058
Exac	rs80359058
Varsome	rs80359058
Map	rs80359058
PheGenI	rs80359058
hapmap	rs80359058
1000 genomes	rs80359058
hgdp	rs80359058
ensembl	rs80359058
gopubmed	rs80359058
geneview	rs80359058
scholar	rs80359058
google	rs80359058
pharmgkb	rs80359058
gwascentral	rs80359058
openSNP	rs80359058
23andMe	rs80359058
23andMe all	rs80359058
SNP Nexus
SNPshot	rs80359058
SNPdbe	rs80359058
MSV3d	rs80359058
GWAS Ctlg	rs80359058

Max Magnitude

6

rs80359058, also known as Q2714X, c.8140C>T and p.Gln2714Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359058(G;G) rs80359058(T;T)
Alt	rs80359058(G;G) rs80359058(T;T)
Reference	Rs80359058(C;C)
Significance	Pathogenic
Disease	not specified Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	not specified Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32937479C>G; NC_000013.10:g.32937479C>T
CLNSRC	ClinVar
CLNACC	RCV000160148.1, RCV000045429.2, RCV000113875.3,