rs80358391

Orientation

plus

Stabilized

plus

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

Make rs80358391(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32319109

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358391
dbSNP (classic)	rs80358391
ClinGen	rs80358391
ebi	rs80358391
HLI	rs80358391
Exac	rs80358391
Gnomad	rs80358391
Varsome	rs80358391
LitVar	rs80358391
Map	rs80358391
PheGenI	rs80358391
Biobank	rs80358391
1000 genomes	rs80358391
hgdp	rs80358391
ensembl	rs80358391
geneview	rs80358391
scholar	rs80358391
google	rs80358391
pharmgkb	rs80358391
gwascentral	rs80358391
openSNP	rs80358391
23andMe	rs80358391
SNPshot	rs80358391
SNPdbe	rs80358391
MSV3d	rs80358391
GWAS Ctlg	rs80358391

Max Magnitude

6

rs80358391, also known as E34X, c.100G>T and p.Glu34Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5009486

ClinVar
Risk	rs80358391(T;T)
Alt	rs80358391(T;T)
Reference	Rs80358391(G;G)
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.32893246G>T
CLNSRC	ClinVar
CLNACC	RCV000043711.2, RCV000113128.3, RCV000222288.1,