PLA2G2A — 32 ClinVar variants
All ClinVar germline PLA2G2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Pathogenic · 5 Benign · 3 Likely benign · 23 Uncertain significance
Full PLA2G2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PLA2G2A p.Ala18Gly Uncertain significance Single submitter
- PLA2G2A p.Asn134Lys Uncertain significance Single submitter
- PLA2G2A p.Asp68Val Uncertain significance Single submitter
- PLA2G2A p.Gln130Leu Uncertain significance Single submitter
- PLA2G2A p.Gly45Ser Uncertain significance Single submitter
- PLA2G2A p.Gly80Val Uncertain significance Single submitter
- PLA2G2A p.Ile95Val Uncertain significance Single submitter
- PLA2G2A p.Leu107Met Uncertain significance Single submitter
- PLA2G2A p.Lys135Glu Uncertain significance Single submitter
- PLA2G2A p.Ser105Gly Uncertain significance Single submitter
- PLA2G2A p.Thr32Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- PLA2G2A p.Ala37Val Uncertain significance Single submitter
- PLA2G2A p.Arg62Cys Uncertain significance Single submitter
- PLA2G2A p.Arg73Cys Uncertain significance Single submitter
- PLA2G2A p.Arg73His Uncertain significance Single submitter
- PLA2G2A p.Arg77Cys Uncertain significance Single submitter
- PLA2G2A p.Arg77Pro Uncertain significance Single submitter
- PLA2G2A p.Asp101Tyr Uncertain significance Single submitter
- PLA2G2A p.Gly78Glu Uncertain significance Single submitter
- PLA2G2A p.Lys127Glu Uncertain significance Single submitter
- PLA2G2A p.Lys35Asn Uncertain significance Single submitter
- PLA2G2A p.Lys57Glu Uncertain significance Single submitter
All PLA2G2A variants
Pathogenic 1
- p.Cys48fs No assertion criteria familial colorectal cancer
Benign 5
- p.His19Tyr Multiple submitters
- p.Leu6= Single submitter
- p.Arg143His No assertion criteria PLA2G2A-related disorder
- p.Thr32= No assertion criteria PLA2G2A-related disorder
- p.Tyr44= No assertion criteria PLA2G2A-related disorder
Likely benign 3
- p.Arg53Lys Single submitter
- p.Arg62= Single submitter
- p.Ala18Thr No assertion criteria PLA2G2A-related disorder
Uncertain significance 23
- p.Ala18Gly Single submitter ⚠
- p.Ala37Val Single submitter ⚠
- p.Arg62Cys Single submitter ⚠
- p.Arg73Cys Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Arg77Cys Single submitter ⚠
- p.Arg77Pro Single submitter ⚠
- p.Asn134Lys Single submitter ⚠
- p.Asp101Tyr Single submitter ⚠
- p.Asp68Val Single submitter ⚠
- p.Gln130Leu Single submitter ⚠
- p.Glu36fs Single submitter
- p.Gly45Ser Single submitter ⚠
- p.Gly78Glu Single submitter ⚠
- p.Gly80Val Single submitter ⚠
- p.Ile95Val Single submitter ⚠
- p.Leu107Met Single submitter ⚠
- p.Lys127Glu Single submitter ⚠
- p.Lys135Glu Single submitter ⚠
- p.Lys35Asn Single submitter ⚠
- p.Lys57Glu Single submitter ⚠
- p.Ser105Gly Single submitter ⚠
- p.Thr32Met Single submitter ⚠