rs80358518

Orientation

plus

Stabilized

plus

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

Make rs80358518(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32336892

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358518
dbSNP (classic)	rs80358518
ClinGen	rs80358518
ebi	rs80358518
HLI	rs80358518
Exac	rs80358518
Gnomad	rs80358518
Varsome	rs80358518
LitVar	rs80358518
Map	rs80358518
PheGenI	rs80358518
Biobank	rs80358518
1000 genomes	rs80358518
hgdp	rs80358518
ensembl	rs80358518
geneview	rs80358518
scholar	rs80358518
google	rs80358518
pharmgkb	rs80358518
gwascentral	rs80358518
openSNP	rs80358518
23andMe	rs80358518
SNPshot	rs80358518
SNPdbe	rs80358518
MSV3d	rs80358518
GWAS Ctlg	rs80358518

Max Magnitude

6

rs80358518, also known as S846X, c.2537C>G and p.Ser846Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358518(G;G)
Alt	rs80358518(G;G)
Reference	Rs80358518(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.32911029C>G
CLNSRC	ClinVar
CLNACC	RCV000044010.2, RCV000113056.3,