rs80358943

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 rs80358943(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32354968

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358943
dbSNP (classic)	rs80358943
ClinGen	rs80358943
ebi	rs80358943
HLI	rs80358943
Exac	rs80358943
Gnomad	rs80358943
Varsome	rs80358943
LitVar	rs80358943
Map	rs80358943
PheGenI	rs80358943
Biobank	rs80358943
1000 genomes	rs80358943
hgdp	rs80358943
ensembl	rs80358943
geneview	rs80358943
scholar	rs80358943
google	rs80358943
pharmgkb	rs80358943
gwascentral	rs80358943
openSNP	rs80358943
23andMe	rs80358943
SNPshot	rs80358943
SNPdbe	rs80358943
MSV3d	rs80358943
GWAS Ctlg	rs80358943

Max Magnitude

6

rs80358943, also known as S2372X, c.7115C>G and p.Ser2372Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358943(G;G)
Alt	rs80358943(G;G)
Reference	Rs80358943(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.32929105C>G
CLNSRC	ClinVar
CLNACC	RCV000045146.2, RCV000113711.3,