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rs397507677

From SNPedia

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


Make rs397507677(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337948
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507677
dbSNP (classic)rs397507677
ClinGenrs397507677
ebirs397507677
HLIrs397507677
Exacrs397507677
Gnomadrs397507677
Varsomers397507677
LitVarrs397507677
Maprs397507677
PheGenIrs397507677
Biobankrs397507677
1000 genomesrs397507677
hgdprs397507677
ensemblrs397507677
geneviewrs397507677
scholarrs397507677
googlers397507677
pharmgkbrs397507677
gwascentralrs397507677
openSNPrs397507677
23andMers397507677
SNPshotrs397507677
SNPdbers397507677
MSV3drs397507677
GWAS Ctlgrs397507677
Max Magnitude6

aka c.3593dupA and also c.3593delA, both of which are pathogenic in ClinVar for breast cancer

ClinVar
Risk rs397507677(-;-)
Alt rs397507677(-;-)
Reference Rs397507677(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32912085delA
CLNSRC ClinVar
CLNACC RCV000044228.2, RCV000241527.1, RCV000479513.1,