rs80358856

Orientation

plus

Stabilized

plus

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

Make rs80358856(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340524

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358856
dbSNP (classic)	rs80358856
ClinGen	rs80358856
ebi	rs80358856
HLI	rs80358856
Exac	rs80358856
Gnomad	rs80358856
Varsome	rs80358856
LitVar	rs80358856
Map	rs80358856
PheGenI	rs80358856
Biobank	rs80358856
1000 genomes	rs80358856
hgdp	rs80358856
ensembl	rs80358856
geneview	rs80358856
scholar	rs80358856
google	rs80358856
pharmgkb	rs80358856
gwascentral	rs80358856
openSNP	rs80358856
23andMe	rs80358856
SNPshot	rs80358856
SNPdbe	rs80358856
MSV3d	rs80358856
GWAS Ctlg	rs80358856

Max Magnitude

6

rs80358856, also known as G2057X, c.6169G>T and p.Gly2057Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358856(T;T)
Alt	rs80358856(T;T)
Reference	Rs80358856(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.32914661G>T
CLNSRC	ClinVar
CLNACC	RCV000044859.2, RCV000113540.3,