rs80358494

Orientation

plus

Stabilized

plus

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

Make rs80358494(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32336579

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358494
dbSNP (classic)	rs80358494
ClinGen	rs80358494
ebi	rs80358494
HLI	rs80358494
Exac	rs80358494
Gnomad	rs80358494
Varsome	rs80358494
LitVar	rs80358494
Map	rs80358494
PheGenI	rs80358494
Biobank	rs80358494
1000 genomes	rs80358494
hgdp	rs80358494
ensembl	rs80358494
geneview	rs80358494
scholar	rs80358494
google	rs80358494
pharmgkb	rs80358494
gwascentral	rs80358494
openSNP	rs80358494
23andMe	rs80358494
SNPshot	rs80358494
SNPdbe	rs80358494
MSV3d	rs80358494
GWAS Ctlg	rs80358494

Max Magnitude

6

rs80358494, also known as Q742X, c.2224C>T and p.Gln742Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358494(A;A) rs80358494(T;T)
Alt	rs80358494(A;A) rs80358494(T;T)
Reference	Rs80358494(C;C)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed	0
HGVS	NC_000013.10:g.32910716C>A; NC_000013.10:g.32910716C>T
CLNSRC	ClinVar
CLNACC	RCV000164550.1, RCV000043958.4, RCV000077273.5, RCV000212220.1,