rs80358615

Orientation

plus

Stabilized

plus

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

Make rs80358615(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338103

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358615
dbSNP (classic)	rs80358615
ClinGen	rs80358615
ebi	rs80358615
HLI	rs80358615
Exac	rs80358615
Gnomad	rs80358615
Varsome	rs80358615
LitVar	rs80358615
Map	rs80358615
PheGenI	rs80358615
Biobank	rs80358615
1000 genomes	rs80358615
hgdp	rs80358615
ensembl	rs80358615
geneview	rs80358615
scholar	rs80358615
google	rs80358615
pharmgkb	rs80358615
gwascentral	rs80358615
openSNP	rs80358615
23andMe	rs80358615
SNPshot	rs80358615
SNPdbe	rs80358615
MSV3d	rs80358615
GWAS Ctlg	rs80358615

Max Magnitude

6

rs80358615, also known as E1250X, c.3748G>T and p.Glu1250Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358615(A;A) rs80358615(T;T)
Alt	rs80358615(A;A) rs80358615(T;T)
Reference	Rs80358615(G;G)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32912240G>A; NC_000013.10:g.32912240G>T
CLNSRC	ClinVar
CLNACC	RCV000221215.1, RCV000044255.2, RCV000113213.2,