rs80358814

Orientation

plus

Stabilized

plus

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

Make rs80358814(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340212

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358814
dbSNP (classic)	rs80358814
ClinGen	rs80358814
ebi	rs80358814
HLI	rs80358814
Exac	rs80358814
Gnomad	rs80358814
Varsome	rs80358814
LitVar	rs80358814
Map	rs80358814
PheGenI	rs80358814
Biobank	rs80358814
1000 genomes	rs80358814
hgdp	rs80358814
ensembl	rs80358814
geneview	rs80358814
scholar	rs80358814
google	rs80358814
pharmgkb	rs80358814
gwascentral	rs80358814
openSNP	rs80358814
23andMe	rs80358814
SNPshot	rs80358814
SNPdbe	rs80358814
MSV3d	rs80358814
GWAS Ctlg	rs80358814

Max Magnitude

6

rs80358814, also known as E1953X, c.5857G>T and p.Glu1953Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358814(T;T)
Alt	rs80358814(T;T)
Reference	Rs80358814(G;G)
Significance	Pathogenic
Disease	not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome BRCA2-Related Disorders
Variation	info
Gene	BRCA2
CLNDBN	not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome BRCA2-Related Disorders
Reversed	0
HGVS	NC_000013.10:g.32914349G>T
CLNSRC	Inc.
CLNACC	RCV000044775.6, RCV000077363.7, RCV000131117.4, RCV000195356.5, RCV000313209.1,