rs80358710

Orientation

plus

Stabilized

plus

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

Make rs80358710(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339214

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358710
dbSNP (classic)	rs80358710
ClinGen	rs80358710
ebi	rs80358710
HLI	rs80358710
Exac	rs80358710
Gnomad	rs80358710
Varsome	rs80358710
LitVar	rs80358710
Map	rs80358710
PheGenI	rs80358710
Biobank	rs80358710
1000 genomes	rs80358710
hgdp	rs80358710
ensembl	rs80358710
geneview	rs80358710
scholar	rs80358710
google	rs80358710
pharmgkb	rs80358710
gwascentral	rs80358710
openSNP	rs80358710
23andMe	rs80358710
SNPshot	rs80358710
SNPdbe	rs80358710
MSV3d	rs80358710
GWAS Ctlg	rs80358710

Max Magnitude

6

rs80358710, also known as L1620X, c.4859T>G and p.Leu1620Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358710(G;G)
Alt	rs80358710(G;G)
Reference	Rs80358710(T;T)
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.32913351T>G
CLNSRC	ClinVar
CLNACC	RCV000044509.2, RCV000113353.3,