rs80358735

Orientation

plus

Stabilized

plus

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

Make rs80358735(C;C)

Make rs80358735(C;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339462

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358735
dbSNP (classic)	rs80358735
ClinGen	rs80358735
ebi	rs80358735
HLI	rs80358735
Exac	rs80358735
Gnomad	rs80358735
Varsome	rs80358735
LitVar	rs80358735
Map	rs80358735
PheGenI	rs80358735
Biobank	rs80358735
1000 genomes	rs80358735
hgdp	rs80358735
ensembl	rs80358735
geneview	rs80358735
scholar	rs80358735
google	rs80358735
pharmgkb	rs80358735
gwascentral	rs80358735
openSNP	rs80358735
23andMe	rs80358735
SNPshot	rs80358735
SNPdbe	rs80358735
MSV3d	rs80358735
GWAS Ctlg	rs80358735

Max Magnitude

6

rs80358735, also known as E1703X, c.5107G>T and p.Glu1703Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358735(C;C) rs80358735(T;T)
Alt	rs80358735(C;C) rs80358735(T;T)
Reference	Rs80358735(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32913599G>C; NC_000013.10:g.32913599G>T
CLNSRC	ClinVar
CLNACC	RCV000044557.2, RCV000113380.1, RCV000044558.2, RCV000113381.2,