rs80359146

Orientation

plus

Stabilized

plus

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

Make rs80359146(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32379513

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359146
dbSNP (classic)	rs80359146
ClinGen	rs80359146
ebi	rs80359146
HLI	rs80359146
Exac	rs80359146
Gnomad	rs80359146
Varsome	rs80359146
LitVar	rs80359146
Map	rs80359146
PheGenI	rs80359146
Biobank	rs80359146
1000 genomes	rs80359146
hgdp	rs80359146
ensembl	rs80359146
geneview	rs80359146
scholar	rs80359146
google	rs80359146
pharmgkb	rs80359146
gwascentral	rs80359146
openSNP	rs80359146
23andMe	rs80359146
SNPshot	rs80359146
SNPdbe	rs80359146
MSV3d	rs80359146
GWAS Ctlg	rs80359146

Max Magnitude

6

rs80359146, also known as S2984X, c.8951C>G and p.Ser2984Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359146(A;A) rs80359146(G;G)
Alt	rs80359146(A;A) rs80359146(G;G)
Reference	Rs80359146(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32953650C>A; NC_000013.10:g.32953650C>G
CLNSRC	ClinVar
CLNACC	RCV000257587.2, RCV000472639.1, RCV000045665.2, RCV000114019.3,