rs80358828

Orientation

plus

Stabilized

plus

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

Make rs80358828(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340314

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358828
dbSNP (classic)	rs80358828
ClinGen	rs80358828
ebi	rs80358828
HLI	rs80358828
Exac	rs80358828
Gnomad	rs80358828
Varsome	rs80358828
LitVar	rs80358828
Map	rs80358828
PheGenI	rs80358828
Biobank	rs80358828
1000 genomes	rs80358828
hgdp	rs80358828
ensembl	rs80358828
geneview	rs80358828
scholar	rs80358828
google	rs80358828
pharmgkb	rs80358828
gwascentral	rs80358828
openSNP	rs80358828
23andMe	rs80358828
SNPshot	rs80358828
SNPdbe	rs80358828
MSV3d	rs80358828
GWAS Ctlg	rs80358828

Max Magnitude

6

rs80358828, also known as Q1987X, c.5959C>T and p.Gln1987Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358828(T;T)
Alt	rs80358828(T;T)
Reference	Rs80358828(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed	0
HGVS	NC_000013.10:g.32914451C>T
CLNSRC	ClinVar
CLNACC	RCV000044803.2, RCV000113510.3, RCV000434288.1,