rs45580035

Orientation

plus

Stabilized

plus

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

Make rs45580035(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32380043

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs45580035
dbSNP (classic)	rs45580035
ClinGen	rs45580035
ebi	rs45580035
HLI	rs45580035
Exac	rs45580035
Gnomad	rs45580035
Varsome	rs45580035
LitVar	rs45580035
Map	rs45580035
PheGenI	rs45580035
Biobank	rs45580035
1000 genomes	rs45580035
hgdp	rs45580035
ensembl	rs45580035
geneview	rs45580035
scholar	rs45580035
google	rs45580035
pharmgkb	rs45580035
gwascentral	rs45580035
openSNP	rs45580035
23andMe	rs45580035
SNPshot	rs45580035
SNPdbe	rs45580035
MSV3d	rs45580035
GWAS Ctlg	rs45580035

Max Magnitude

6

rs45580035, also known as c.9154C>T or p.Arg3052Trp, is a rare mutation in the BRCA2 gene.

The minor/rare allele is considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs45580035(T;T)
Alt	rs45580035(T;T)
Reference	Rs45580035(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	0
HGVS	NC_000013.10:g.32954180C>T
CLNSRC	ClinVar Invitae
CLNACC	RCV000045732.4, RCV000077461.5, RCV000163027.2, RCV000210144.1, RCV000221843.2,