rs80358790

Orientation

plus

Stabilized

plus

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

Make rs80358790(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340011

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358790
dbSNP (classic)	rs80358790
ClinGen	rs80358790
ebi	rs80358790
HLI	rs80358790
Exac	rs80358790
Gnomad	rs80358790
Varsome	rs80358790
LitVar	rs80358790
Map	rs80358790
PheGenI	rs80358790
Biobank	rs80358790
1000 genomes	rs80358790
hgdp	rs80358790
ensembl	rs80358790
geneview	rs80358790
scholar	rs80358790
google	rs80358790
pharmgkb	rs80358790
gwascentral	rs80358790
openSNP	rs80358790
23andMe	rs80358790
SNPshot	rs80358790
SNPdbe	rs80358790
MSV3d	rs80358790
GWAS Ctlg	rs80358790

Max Magnitude

6

rs80358790, also known as Q1886X, c.5656C>T and p.Gln1886Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358790(T;T)
Alt	rs80358790(T;T)
Reference	Rs80358790(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32914148C>T
CLNSRC	ClinVar
CLNACC	RCV000044710.3, RCV000113455.3, RCV000446276.1, RCV000480447.1,