rs398122772

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;A)	4	BRCA2 variant considered pathogenic for breast cancer
(A;A)	0	common in clinvar

Make rs398122772(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338228

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs398122772
dbSNP (classic)	rs398122772
ClinGen	rs398122772
ebi	rs398122772
HLI	rs398122772
Exac	rs398122772
Gnomad	rs398122772
Varsome	rs398122772
LitVar	rs398122772
Map	rs398122772
PheGenI	rs398122772
Biobank	rs398122772
1000 genomes	rs398122772
hgdp	rs398122772
ensembl	rs398122772
geneview	rs398122772
scholar	rs398122772
google	rs398122772
pharmgkb	rs398122772
gwascentral	rs398122772
openSNP	rs398122772
23andMe	rs398122772
SNPshot	rs398122772
SNPdbe	rs398122772
MSV3d	rs398122772
GWAS Ctlg	rs398122772

Max Magnitude

4

rs398122772, also known as c.3873delA or p.Gln1291Hisfs, is a mutation in the BRCA2 gene on chromosome 13.

It is considered pathogenic for breast cancer in ClinVar, however, this is based on only a single report submission.

ClinVar
Risk	rs398122772(-;-)
Alt	rs398122772(-;-)
Reference	Rs398122772(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32912365delA
CLNSRC	ClinVar
CLNACC	RCV000077717.4,