rs397507387

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;AG)	6	Likely a pathogenic variant for breast cancer

Make rs397507387(AG;AG)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32330977

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507387
dbSNP (classic)	rs397507387
ClinGen	rs397507387
ebi	rs397507387
HLI	rs397507387
Exac	rs397507387
Gnomad	rs397507387
Varsome	rs397507387
LitVar	rs397507387
Map	rs397507387
PheGenI	rs397507387
Biobank	rs397507387
1000 genomes	rs397507387
hgdp	rs397507387
ensembl	rs397507387
geneview	rs397507387
scholar	rs397507387
google	rs397507387
pharmgkb	rs397507387
gwascentral	rs397507387
openSNP	rs397507387
23andMe	rs397507387
SNPshot	rs397507387
SNPdbe	rs397507387
MSV3d	rs397507387
GWAS Ctlg	rs397507387

Max Magnitude

6

aka c.740_741insAG (p.Ser249fs)

As of 2019, the only submitter to ClinVar considers this to be a BRCA2 pathogenic mutation for breast cancer.

ClinVar
Risk	rs397507387(AG;AG)
Alt	rs397507387(AG;AG)
Reference	Rs397507387(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32905114_32905115insAG
CLNSRC	ClinVar
CLNACC	RCV000031674.3,