rs397507583

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GA)	6	BRCA2 variant considered pathogenic for breast cancer
(AG;AG)	0	common in clinvar
(GA;GA)	0	common in clinvar

Make rs397507583(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32332846

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507583
dbSNP (classic)	rs397507583
ClinGen	rs397507583
ebi	rs397507583
HLI	rs397507583
Exac	rs397507583
Gnomad	rs397507583
Varsome	rs397507583
LitVar	rs397507583
Map	rs397507583
PheGenI	rs397507583
Biobank	rs397507583
1000 genomes	rs397507583
hgdp	rs397507583
ensembl	rs397507583
geneview	rs397507583
scholar	rs397507583
google	rs397507583
pharmgkb	rs397507583
gwascentral	rs397507583
openSNP	rs397507583
23andMe	rs397507583
SNPshot	rs397507583
SNPdbe	rs397507583
MSV3d	rs397507583
GWAS Ctlg	rs397507583

Max Magnitude

6

aka c.1366_1367delGA as well as c.1366_1367dupGA; both are considered in ClinVar to be pathogenic for breast cancer

ClinVar
Risk	rs397507583(-;-)
Alt	rs397507583(-;-)
Reference	Rs397507583(AG;AG)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32906983_32906984delGA
CLNSRC	ClinVar
CLNACC	RCV000043790.2, RCV000257597.2,