rs80358638

Orientation

plus

Stabilized

plus

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

Make rs80358638(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338277

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358638
dbSNP (classic)	rs80358638
ClinGen	rs80358638
ebi	rs80358638
HLI	rs80358638
Exac	rs80358638
Gnomad	rs80358638
Varsome	rs80358638
LitVar	rs80358638
Map	rs80358638
PheGenI	rs80358638
Biobank	rs80358638
1000 genomes	rs80358638
hgdp	rs80358638
ensembl	rs80358638
geneview	rs80358638
scholar	rs80358638
google	rs80358638
pharmgkb	rs80358638
gwascentral	rs80358638
openSNP	rs80358638
23andMe	rs80358638
SNPshot	rs80358638
SNPdbe	rs80358638
MSV3d	rs80358638
GWAS Ctlg	rs80358638

Max Magnitude

6

rs80358638, also known as E1308X, c.3922G>T and p.Glu1308Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358638(T;T)
Alt	rs80358638(T;T)
Reference	Rs80358638(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32912414G>T
CLNSRC	Inc.
CLNACC	RCV000031448.10, RCV000044312.6, RCV000128952.4, RCV000167856.5, RCV000465243.1,