rs80358807

Orientation

plus

Stabilized

plus

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

Make rs80358807(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340146

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358807
dbSNP (classic)	rs80358807
ClinGen	rs80358807
ebi	rs80358807
HLI	rs80358807
Exac	rs80358807
Gnomad	rs80358807
Varsome	rs80358807
LitVar	rs80358807
Map	rs80358807
PheGenI	rs80358807
Biobank	rs80358807
1000 genomes	rs80358807
hgdp	rs80358807
ensembl	rs80358807
geneview	rs80358807
scholar	rs80358807
google	rs80358807
pharmgkb	rs80358807
gwascentral	rs80358807
openSNP	rs80358807
23andMe	rs80358807
SNPshot	rs80358807
SNPdbe	rs80358807
MSV3d	rs80358807
GWAS Ctlg	rs80358807

Max Magnitude

6

rs80358807, also known as Q1931X, c.5791C>T and p.Gln1931Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358807(T;T)
Alt	rs80358807(T;T)
Reference	Rs80358807(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.32914283C>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000044758.2, RCV000077361.5, RCV000131105.3,