rs80358951

Orientation

plus

Stabilized

plus

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

Make rs80358951(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32355094

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358951
dbSNP (classic)	rs80358951
ClinGen	rs80358951
ebi	rs80358951
HLI	rs80358951
Exac	rs80358951
Gnomad	rs80358951
Varsome	rs80358951
LitVar	rs80358951
Map	rs80358951
PheGenI	rs80358951
Biobank	rs80358951
1000 genomes	rs80358951
hgdp	rs80358951
ensembl	rs80358951
geneview	rs80358951
scholar	rs80358951
google	rs80358951
pharmgkb	rs80358951
gwascentral	rs80358951
openSNP	rs80358951
23andMe	rs80358951
SNPshot	rs80358951
SNPdbe	rs80358951
MSV3d	rs80358951
GWAS Ctlg	rs80358951

Max Magnitude

6

rs80358951, also known as S2414X, c.7241C>G and p.Ser2414Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358951(G;G) rs80358951(T;T)
Alt	rs80358951(G;G) rs80358951(T;T)
Reference	Rs80358951(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32929231C>G; NC_000013.10:g.32929231C>T
CLNSRC	ClinVar
CLNACC	RCV000045173.2, RCV000113736.2, RCV000217367.1, RCV000482316.1, RCV000045174.2, RCV000113737.1,