rs80358485

Orientation

plus

Stabilized

plus

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

Make rs80358485(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32336419

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358485
dbSNP (classic)	rs80358485
ClinGen	rs80358485
ebi	rs80358485
HLI	rs80358485
Exac	rs80358485
Gnomad	rs80358485
Varsome	rs80358485
LitVar	rs80358485
Map	rs80358485
PheGenI	rs80358485
Biobank	rs80358485
1000 genomes	rs80358485
hgdp	rs80358485
ensembl	rs80358485
geneview	rs80358485
scholar	rs80358485
google	rs80358485
pharmgkb	rs80358485
gwascentral	rs80358485
openSNP	rs80358485
23andMe	rs80358485
SNPshot	rs80358485
SNPdbe	rs80358485
MSV3d	rs80358485
GWAS Ctlg	rs80358485

Max Magnitude

6

rs80358485, also known as Y688X, c.2064T>G and p.Tyr688Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358485(G;G)
Alt	rs80358485(G;G)
Reference	Rs80358485(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.32910556T>G
CLNSRC	ClinVar
CLNACC	RCV000043940.2, RCV000113009.2,