rs80358994

Orientation

plus

Stabilized

plus

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

Make rs80358994(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32357805

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358994
dbSNP (classic)	rs80358994
ClinGen	rs80358994
ebi	rs80358994
HLI	rs80358994
Exac	rs80358994
Gnomad	rs80358994
Varsome	rs80358994
LitVar	rs80358994
Map	rs80358994
PheGenI	rs80358994
Biobank	rs80358994
1000 genomes	rs80358994
hgdp	rs80358994
ensembl	rs80358994
geneview	rs80358994
scholar	rs80358994
google	rs80358994
pharmgkb	rs80358994
gwascentral	rs80358994
openSNP	rs80358994
23andMe	rs80358994
SNPshot	rs80358994
SNPdbe	rs80358994
MSV3d	rs80358994
GWAS Ctlg	rs80358994

Max Magnitude

6

rs80358994, also known as Q2561X, c.7681C>T and p.Gln2561Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358994(T;T)
Alt	rs80358994(T;T)
Reference	Rs80358994(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32931942C>T
CLNSRC	ClinVar
CLNACC	RCV000045286.2, RCV000083140.5,