rs80358620

Orientation

plus

Stabilized

plus

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

Make rs80358620(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338140

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358620
dbSNP (classic)	rs80358620
ClinGen	rs80358620
ebi	rs80358620
HLI	rs80358620
Exac	rs80358620
Gnomad	rs80358620
Varsome	rs80358620
LitVar	rs80358620
Map	rs80358620
PheGenI	rs80358620
Biobank	rs80358620
1000 genomes	rs80358620
hgdp	rs80358620
ensembl	rs80358620
geneview	rs80358620
scholar	rs80358620
google	rs80358620
pharmgkb	rs80358620
gwascentral	rs80358620
openSNP	rs80358620
23andMe	rs80358620
SNPshot	rs80358620
SNPdbe	rs80358620
MSV3d	rs80358620
GWAS Ctlg	rs80358620

Max Magnitude

6

rs80358620, also known as S1262X, c.3785C>G and p.Ser1262Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358620(G;G)
Alt	rs80358620(G;G)
Reference	Rs80358620(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32912277C>G
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000044266.3, RCV000113219.3, RCV000129108.3, RCV000481804.1,