PLA2G4B — 22 ClinVar variants
All ClinVar germline PLA2G4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
1 Conflicting · 4 Benign · 6 Likely benign · 11 Uncertain significance
Full PLA2G4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PLA2G4B p.Arg108Gln Uncertain significance Single submitter
- PLA2G4B p.Arg383Trp Uncertain significance Single submitter
- PLA2G4B p.Arg656Gln Uncertain significance Single submitter
- PLA2G4B p.Gln537Glu Uncertain significance Single submitter
- PLA2G4B p.Gly304Ser Uncertain significance Single submitter
- PLA2G4B p.Lys25Glu Uncertain significance Single submitter
- PLA2G4B p.Thr737Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
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PLA2G4B p.Arg769Cys
Uncertain significance
Multiple submitters
neurodevelopmental disorder
- PLA2G4B p.Thr753Pro Uncertain significance Single submitter
-
PLA2G4B p.Glu707Lys
Likely benign
No assertion criteria
PLA2G4B-related disorder
All PLA2G4B variants
Conflicting classifications of pathogenicity 1
- p.Arg228Met Single submitter ⚠
Benign 4
- p.Ser140= Single submitter
- c.83-5C>T No assertion criteria PLA2G4B-related disorder
- p.His153= No assertion criteria PLA2G4B-related disorder
- p.Val230Leu No assertion criteria PLA2G4B-related disorder
Likely benign 6
- p.Leu138= Single submitter
- p.Thr233= Single submitter
- p.Glu707Lys No assertion criteria PLA2G4B-related disorder ⚠
- p.Leu128= No assertion criteria PLA2G4B-related disorder
- p.Tyr34= No assertion criteria PLA2G4B-related disorder
- p.Val328Ile No assertion criteria PLA2G4B-related disorder
Uncertain significance 11
- p.Arg769Cys Multiple submitters neurodevelopmental disorder ⚠
- c.392+2_392+3del Single submitter autism spectrum disorder
- p.Arg108Gln Single submitter ⚠
- p.Arg383Trp Single submitter ⚠
- p.Arg656Gln Single submitter ⚠
- p.Asp635Asn Single submitter
- p.Gln537Glu Single submitter ⚠
- p.Gly304Ser Single submitter ⚠
- p.Lys25Glu Single submitter ⚠
- p.Thr737Met Single submitter ⚠
- p.Thr753Pro Single submitter ⚠