rs80359234

Orientation

plus

Stabilized

plus

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

Make rs80359234(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32332439

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359234
dbSNP (classic)	rs80359234
ClinGen	rs80359234
ebi	rs80359234
HLI	rs80359234
Exac	rs80359234
Gnomad	rs80359234
Varsome	rs80359234
LitVar	rs80359234
Map	rs80359234
PheGenI	rs80359234
Biobank	rs80359234
1000 genomes	rs80359234
hgdp	rs80359234
ensembl	rs80359234
geneview	rs80359234
scholar	rs80359234
google	rs80359234
pharmgkb	rs80359234
gwascentral	rs80359234
openSNP	rs80359234
23andMe	rs80359234
SNPshot	rs80359234
SNPdbe	rs80359234
MSV3d	rs80359234
GWAS Ctlg	rs80359234

Max Magnitude

6

rs80359234, also known as Q321X, c.961C>T and p.Gln321Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359234(T;T)
Alt	rs80359234(T;T)
Reference	Rs80359234(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32906576C>T
CLNSRC	ClinVar
CLNACC	RCV000045869.2, RCV000112867.3, RCV000217571.1,