rs80358843

Orientation

plus

Stabilized

plus

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

Make rs80358843(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340420

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358843
dbSNP (classic)	rs80358843
ClinGen	rs80358843
ebi	rs80358843
HLI	rs80358843
Exac	rs80358843
Gnomad	rs80358843
Varsome	rs80358843
LitVar	rs80358843
Map	rs80358843
PheGenI	rs80358843
Biobank	rs80358843
1000 genomes	rs80358843
hgdp	rs80358843
ensembl	rs80358843
geneview	rs80358843
scholar	rs80358843
google	rs80358843
pharmgkb	rs80358843
gwascentral	rs80358843
openSNP	rs80358843
23andMe	rs80358843
SNPshot	rs80358843
SNPdbe	rs80358843
MSV3d	rs80358843
GWAS Ctlg	rs80358843

Max Magnitude

6

rs80358843, also known as S2022X, c.6065C>G and p.Ser2022Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358843(G;G)
Alt	rs80358843(G;G)
Reference	Rs80358843(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.32914557C>G
CLNSRC	ClinVar
CLNACC	RCV000044830.2, RCV000113522.3, RCV000217928.1, RCV000429027.1,