rs80358892

Orientation

plus

Stabilized

plus

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

Make rs80358892(G;G)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32341000

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358892
dbSNP (classic)	rs80358892
ClinGen	rs80358892
ebi	rs80358892
HLI	rs80358892
Exac	rs80358892
Gnomad	rs80358892
Varsome	rs80358892
LitVar	rs80358892
Map	rs80358892
PheGenI	rs80358892
Biobank	rs80358892
1000 genomes	rs80358892
hgdp	rs80358892
ensembl	rs80358892
geneview	rs80358892
scholar	rs80358892
google	rs80358892
pharmgkb	rs80358892
gwascentral	rs80358892
openSNP	rs80358892
23andMe	rs80358892
SNPshot	rs80358892
SNPdbe	rs80358892
MSV3d	rs80358892
GWAS Ctlg	rs80358892

Max Magnitude

6

rs80358892, also known as Y2215X, c.6645C>G and p.Tyr2215Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358892(G;G)
Alt	rs80358892(G;G)
Reference	Rs80358892(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32915137C>G
CLNSRC	ClinVar
CLNACC	RCV000113621.3, RCV000490731.1,