rs138734772

plus

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

Make rs138734772(C;C)

Make rs138734772(C;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333072

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs138734772
dbSNP (classic)	rs138734772
ClinGen	rs138734772
ebi	rs138734772
HLI	rs138734772
Exac	rs138734772
Gnomad	rs138734772
Varsome	rs138734772
LitVar	rs138734772
Map	rs138734772
PheGenI	rs138734772
Biobank	rs138734772
1000 genomes	rs138734772
hgdp	rs138734772
ensembl	rs138734772
geneview	rs138734772
scholar	rs138734772
google	rs138734772
pharmgkb	rs138734772
gwascentral	rs138734772
openSNP	rs138734772
23andMe	rs138734772
SNPshot	rs138734772
SNPdbe	rs138734772
MSV3d	rs138734772
GWAS Ctlg	rs138734772

Max Magnitude

6

Pathogenic variant is also known as c.1594G>T (p.Glu532Ter); but note existence of c.1594G>A (p.Glu532Lys) and c.1594G>C (p.Glu532Gln), both of which are considered variants of uncertain significance in ClinVar.

ClinVar
Risk	rs138734772(A;A) rs138734772(C;C) rs138734772(T;T)
Alt	rs138734772(A;A) rs138734772(C;C) rs138734772(T;T)
Reference	Rs138734772(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32907209G>A; NC_000013.10:g.32907209G>T
CLNSRC	ClinVar
CLNACC	RCV000168550.2, RCV000210974.1, RCV000043835.2, RCV000257686.2,