rs80358838

Orientation

plus

Stabilized

plus

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

Make rs80358838(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340380

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358838
dbSNP (old)	rs80358838
ClinGen	rs80358838
ebi	rs80358838
HLI	rs80358838
Exac	rs80358838
Gnomad	rs80358838
Varsome	rs80358838
Map	rs80358838
PheGenI	rs80358838
Biobank	rs80358838
1000 genomes	rs80358838
hgdp	rs80358838
ensembl	rs80358838
gopubmed	rs80358838
geneview	rs80358838
scholar	rs80358838
google	rs80358838
pharmgkb	rs80358838
gwascentral	rs80358838
openSNP	rs80358838
23andMe	rs80358838
23andMe all	rs80358838
SNP Nexus
SNPshot	rs80358838
SNPdbe	rs80358838
MSV3d	rs80358838
GWAS Ctlg	rs80358838

Max Magnitude

6

rs80358838, also known as Q2009X, c.6025C>T and p.Gln2009Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358838(T;T)
Alt	rs80358838(T;T)
Reference	Rs80358838(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32914517C>T
CLNSRC	ClinVar
CLNACC	RCV000044821.3, RCV000113520.3, RCV000213281.1,