rs80358893

Orientation

plus

Stabilized

plus

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

Make rs80358893(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32341011

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358893
dbSNP (classic)	rs80358893
ClinGen	rs80358893
ebi	rs80358893
HLI	rs80358893
Exac	rs80358893
Gnomad	rs80358893
Varsome	rs80358893
LitVar	rs80358893
Map	rs80358893
PheGenI	rs80358893
Biobank	rs80358893
1000 genomes	rs80358893
hgdp	rs80358893
ensembl	rs80358893
geneview	rs80358893
scholar	rs80358893
google	rs80358893
pharmgkb	rs80358893
gwascentral	rs80358893
openSNP	rs80358893
23andMe	rs80358893
SNPshot	rs80358893
SNPdbe	rs80358893
MSV3d	rs80358893
GWAS Ctlg	rs80358893

Max Magnitude

6

rs80358893, also known as S2219X, c.6656C>G and p.Ser2219Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358893(G;G)
Alt	rs80358893(G;G)
Reference	Rs80358893(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32915148C>G
CLNSRC	ClinVar
CLNACC	RCV000045010.2, RCV000113622.3, RCV000447889.1,