rs80358428

Orientation

plus

Stabilized

plus

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

Make rs80358428(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32332889

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358428
dbSNP (classic)	rs80358428
ClinGen	rs80358428
ebi	rs80358428
HLI	rs80358428
Exac	rs80358428
Gnomad	rs80358428
Varsome	rs80358428
LitVar	rs80358428
Map	rs80358428
PheGenI	rs80358428
Biobank	rs80358428
1000 genomes	rs80358428
hgdp	rs80358428
ensembl	rs80358428
geneview	rs80358428
scholar	rs80358428
google	rs80358428
pharmgkb	rs80358428
gwascentral	rs80358428
openSNP	rs80358428
23andMe	rs80358428
SNPshot	rs80358428
SNPdbe	rs80358428
MSV3d	rs80358428
GWAS Ctlg	rs80358428

Max Magnitude

6

rs80358428, also known as E471X, c.1411G>T and p.Glu471Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358428(T;T)
Alt	rs80358428(T;T)
Reference	Rs80358428(G;G)
Significance	Pathogenic
Disease	not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32907026G>T
CLNSRC	ClinVar
CLNACC	RCV000043801.6, RCV000112919.3, RCV000162910.1, RCV000195351.1,