PLA2G2D — 22 ClinVar variants
All ClinVar germline PLA2G2D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Benign · 4 Likely benign · 17 Uncertain significance
Full PLA2G2D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PLA2G2D p.Arg135Gln Uncertain significance Single submitter
- PLA2G2D p.Arg135Leu Uncertain significance Single submitter
- PLA2G2D p.Asp72Gly Uncertain significance Single submitter
- PLA2G2D p.Gly49Arg Uncertain significance Single submitter
- PLA2G2D p.Gly51Arg Uncertain significance Single submitter
- PLA2G2D p.Gly54Ser Uncertain significance Single submitter
- PLA2G2D p.Met28Arg Uncertain significance Single submitter
- PLA2G2D p.Met28Thr Uncertain significance Single submitter
- PLA2G2D p.Pro136Ser Uncertain significance Single submitter
- PLA2G2D p.Thr142Ile Uncertain significance Single submitter
- PLA2G2D p.Thr66Ile Uncertain significance Single submitter
- PLA2G2D p.Tyr133Phe Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PLA2G2D variants
Benign 1
- p.Thr60= Single submitter
Likely benign 4
- p.Cys48= Single submitter
- p.Gly45Ser Single submitter
- p.Lys30Arg Single submitter
- p.Ser40Phe Single submitter
Uncertain significance 17
- p.Ala59Val Single submitter ⚠
- p.Arg135Gln Single submitter ⚠
- p.Arg135Leu Single submitter ⚠
- p.Asp72Gly Single submitter ⚠
- p.Gly49Arg Single submitter ⚠
- p.Gly51Arg Single submitter ⚠
- p.Gly54Ser Single submitter ⚠
- p.Lys57Glu Single submitter ⚠
- p.Met28Arg Single submitter ⚠
- p.Met28Ile Single submitter ⚠
- p.Met28Thr Single submitter ⚠
- p.Phe90Leu Single submitter ⚠
- p.Pro136Ser Single submitter ⚠
- p.Thr142Ile Single submitter ⚠
- p.Thr60Met Single submitter ⚠
- p.Thr66Ile Single submitter ⚠
- p.Tyr133Phe Single submitter ⚠