rs80358665

Orientation

plus

Stabilized

plus

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

Make rs80358665(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338640

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358665
dbSNP (classic)	rs80358665
ClinGen	rs80358665
ebi	rs80358665
HLI	rs80358665
Exac	rs80358665
Gnomad	rs80358665
Varsome	rs80358665
LitVar	rs80358665
Map	rs80358665
PheGenI	rs80358665
Biobank	rs80358665
1000 genomes	rs80358665
hgdp	rs80358665
ensembl	rs80358665
geneview	rs80358665
scholar	rs80358665
google	rs80358665
pharmgkb	rs80358665
gwascentral	rs80358665
openSNP	rs80358665
23andMe	rs80358665
SNPshot	rs80358665
SNPdbe	rs80358665
MSV3d	rs80358665
GWAS Ctlg	rs80358665

Max Magnitude

6

rs80358665, also known as Q1429X, c.4285C>T and p.Gln1429Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358665(T;T)
Alt	rs80358665(T;T)
Reference	Rs80358665(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.32912777C>T
CLNSRC	ClinVar
CLNACC	RCV000044388.3, RCV000113290.2, RCV000219511.1,