rs80358498

Orientation

plus

Stabilized

plus

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

Make rs80358498(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32319236

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358498
dbSNP (classic)	rs80358498
ClinGen	rs80358498
ebi	rs80358498
HLI	rs80358498
Exac	rs80358498
Gnomad	rs80358498
Varsome	rs80358498
LitVar	rs80358498
Map	rs80358498
PheGenI	rs80358498
Biobank	rs80358498
1000 genomes	rs80358498
hgdp	rs80358498
ensembl	rs80358498
geneview	rs80358498
scholar	rs80358498
google	rs80358498
pharmgkb	rs80358498
gwascentral	rs80358498
openSNP	rs80358498
23andMe	rs80358498
SNPshot	rs80358498
SNPdbe	rs80358498
MSV3d	rs80358498
GWAS Ctlg	rs80358498

Max Magnitude

6

rs80358498, also known as S76X, c.227C>G and p.Ser76Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358498(G;G)
Alt	rs80358498(G;G)
Reference	Rs80358498(C;C)
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.32893373C>G
CLNSRC	ClinVar
CLNACC	RCV000043967.2, RCV000113296.3,