rs80358831

Orientation

plus

Stabilized

plus

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

Make rs80358831(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340335

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358831
dbSNP (classic)	rs80358831
ClinGen	rs80358831
ebi	rs80358831
HLI	rs80358831
Exac	rs80358831
Gnomad	rs80358831
Varsome	rs80358831
LitVar	rs80358831
Map	rs80358831
PheGenI	rs80358831
Biobank	rs80358831
1000 genomes	rs80358831
hgdp	rs80358831
ensembl	rs80358831
geneview	rs80358831
scholar	rs80358831
google	rs80358831
pharmgkb	rs80358831
gwascentral	rs80358831
openSNP	rs80358831
23andMe	rs80358831
SNPshot	rs80358831
SNPdbe	rs80358831
MSV3d	rs80358831
GWAS Ctlg	rs80358831

Max Magnitude

6

rs80358831, also known as Q1994X, c.5980C>T and p.Gln1994Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358831(T;T)
Alt	rs80358831(T;T)
Reference	Rs80358831(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32914472C>T
CLNSRC	ClinVar
CLNACC	RCV000031592.6, RCV000044810.3, RCV000457725.1,