rs80358435

Orientation

plus

Stabilized

plus

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

Make rs80358435(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32319154

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358435
dbSNP (classic)	rs80358435
ClinGen	rs80358435
ebi	rs80358435
HLI	rs80358435
Exac	rs80358435
Gnomad	rs80358435
Varsome	rs80358435
LitVar	rs80358435
Map	rs80358435
PheGenI	rs80358435
Biobank	rs80358435
1000 genomes	rs80358435
hgdp	rs80358435
ensembl	rs80358435
geneview	rs80358435
scholar	rs80358435
google	rs80358435
pharmgkb	rs80358435
gwascentral	rs80358435
openSNP	rs80358435
23andMe	rs80358435
SNPshot	rs80358435
SNPdbe	rs80358435
MSV3d	rs80358435
GWAS Ctlg	rs80358435

Max Magnitude

6

rs80358435, also known as E49X, c.145G>T and p.Glu49Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358435(T;T)
Alt	rs80358435(T;T)
Reference	Rs80358435(G;G)
Significance	Pathogenic
Disease	not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32893291G>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000043811.5, RCV000077257.7, RCV000131868.3, RCV000167820.3, RCV000238910.1,