rs80358644

Orientation

plus

Stabilized

plus

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

Make rs80358644(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338313

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358644
dbSNP (classic)	rs80358644
ClinGen	rs80358644
ebi	rs80358644
HLI	rs80358644
Exac	rs80358644
Gnomad	rs80358644
Varsome	rs80358644
LitVar	rs80358644
Map	rs80358644
PheGenI	rs80358644
Biobank	rs80358644
1000 genomes	rs80358644
hgdp	rs80358644
ensembl	rs80358644
geneview	rs80358644
scholar	rs80358644
google	rs80358644
pharmgkb	rs80358644
gwascentral	rs80358644
openSNP	rs80358644
23andMe	rs80358644
SNPshot	rs80358644
SNPdbe	rs80358644
MSV3d	rs80358644
GWAS Ctlg	rs80358644

Max Magnitude

6

rs80358644, also known as E1320X, c.3958G>T and p.Glu1320Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358644(A;A) rs80358644(T;T)
Alt	rs80358644(A;A) rs80358644(T;T)
Reference	Rs80358644(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32912450G>A; NC_000013.10:g.32912450G>T
CLNSRC	ClinVar
CLNACC	RCV000231743.1, RCV000044321.2, RCV000113251.2,