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rs397507659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GTAGT) 6 BRCA2 variant considered pathogenic for breast cancer
(GTAGT;GTAGT) 0 common in clinvar
(I;I) 0 common genotype


Make rs397507659(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337581
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507659
dbSNP (classic)rs397507659
ClinGenrs397507659
ebirs397507659
HLIrs397507659
Exacrs397507659
Gnomadrs397507659
Varsomers397507659
LitVarrs397507659
Maprs397507659
PheGenIrs397507659
Biobankrs397507659
1000 genomesrs397507659
hgdprs397507659
ensemblrs397507659
geneviewrs397507659
scholarrs397507659
googlers397507659
pharmgkbrs397507659
gwascentralrs397507659
openSNPrs397507659
23andMers397507659
SNPshotrs397507659
SNPdbers397507659
MSV3drs397507659
GWAS Ctlgrs397507659
Max Magnitude6

aka c.3221_3225GTAGT, c.3226_3230delGTAGT (p.Val1076Cysfs)

23andMe name: i5009179

ClinVar
Risk rs397507659(-;-)
Alt rs397507659(-;-)
Reference Rs397507659(GTAGT;GTAGT)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911718_32911722delGTAGT
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044151.2, RCV000130009.2, RCV000241468.2,