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rs397507688

From SNPedia

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


Make rs397507688(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338179
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507688
dbSNP (classic)rs397507688
ClinGenrs397507688
ebirs397507688
HLIrs397507688
Exacrs397507688
Gnomadrs397507688
Varsomers397507688
LitVarrs397507688
Maprs397507688
PheGenIrs397507688
Biobankrs397507688
1000 genomesrs397507688
hgdprs397507688
ensemblrs397507688
geneviewrs397507688
scholarrs397507688
googlers397507688
pharmgkbrs397507688
gwascentralrs397507688
openSNPrs397507688
23andMers397507688
SNPshotrs397507688
SNPdbers397507688
MSV3drs397507688
GWAS Ctlgrs397507688
Max Magnitude6

aka c.3824_3827delTAGA (p.Ile1275Lysfs)

23andMe name: i5009163


ClinVar
Risk rs397507688(-;-)
Alt rs397507688(-;-)
Reference Rs397507688(AGAT;AGAT)
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.32912316_32912319delTAGA
CLNSRC ClinVar
CLNACC RCV000044273.2, RCV000256638.2,