PLA2G5 — 138 ClinVar variants
All ClinVar germline PLA2G5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
1 Pathogenic · 8 Conflicting · 4 Benign · 35 Likely benign · 90 Uncertain significance
Full PLA2G5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PLA2G5 p.Arg112Trp Uncertain significance Multiple submitters
- PLA2G5 p.Arg53Gln Uncertain significance Multiple submitters
- PLA2G5 p.Asn134Lys Uncertain significance Multiple submitters
- PLA2G5 p.Cys103Arg Uncertain significance Multiple submitters
- PLA2G5 p.Glu98Lys Uncertain significance Multiple submitters
- PLA2G5 p.Gly45Ser Uncertain significance Multiple submitters
-
PLA2G5 p.Gly49Ser
Uncertain significance
Multiple submitters
familial benign flecked retina
- PLA2G5 p.Lys119Arg Uncertain significance Multiple submitters
- PLA2G5 p.Lys31Glu Uncertain significance Multiple submitters
- PLA2G5 p.Pro16Leu Uncertain significance Multiple submitters
- PLA2G5 p.Pro6Ser Uncertain significance Multiple submitters
- PLA2G5 p.Ala109Val Uncertain significance Single submitter
- PLA2G5 p.Ala37Gly Uncertain significance Single submitter
- PLA2G5 p.Ala91Val Uncertain significance Single submitter
- PLA2G5 p.Arg112Leu Uncertain significance Single submitter
- PLA2G5 p.Arg123Gly Uncertain significance Single submitter
- PLA2G5 p.Arg73Trp Uncertain significance Single submitter
- PLA2G5 p.Arg82His Uncertain significance Single submitter
- PLA2G5 p.Asn121Ile Uncertain significance Single submitter
- PLA2G5 p.Asn126Lys Uncertain significance Single submitter
- PLA2G5 p.Asn134His Uncertain significance Single submitter
- PLA2G5 p.Asp58Gly Uncertain significance Single submitter
- PLA2G5 p.Asp61Asn Uncertain significance Single submitter
- PLA2G5 p.Cys46Tyr Uncertain significance Single submitter
- PLA2G5 p.Cys48Gly Uncertain significance Single submitter
- PLA2G5 p.Cys63Tyr Uncertain significance Single submitter
- PLA2G5 p.Cys79Ser Uncertain significance Single submitter
- PLA2G5 p.Gln130Leu Uncertain significance Single submitter
- PLA2G5 p.Gly20Arg Uncertain significance Single submitter
- PLA2G5 p.Gly21Arg Uncertain significance Single submitter
- PLA2G5 p.Gly21Val Uncertain significance Single submitter
- PLA2G5 p.Gly42Ser Uncertain significance Single submitter
- PLA2G5 p.Gly42Val Uncertain significance Single submitter
- PLA2G5 p.Gly52Asp Uncertain significance Single submitter
- PLA2G5 p.His104Pro Uncertain significance Single submitter
- PLA2G5 p.Leu22Ser Uncertain significance Single submitter
- PLA2G5 p.Lys31Asn Uncertain significance Single submitter
- PLA2G5 p.Lys35Arg Uncertain significance Single submitter
- PLA2G5 p.Lys77Arg Uncertain significance Single submitter
- PLA2G5 p.Lys87Arg Uncertain significance Single submitter
- PLA2G5 p.Lys87Gln Uncertain significance Single submitter
- PLA2G5 p.Pro101Leu Uncertain significance Single submitter
- PLA2G5 p.Pro101Ser Uncertain significance Single submitter
- PLA2G5 p.Pro101Thr Uncertain significance Single submitter
- PLA2G5 p.Pro127Ala Uncertain significance Single submitter
- PLA2G5 p.Pro6Leu Uncertain significance Single submitter
- PLA2G5 p.Pro99Ser Uncertain significance Single submitter
- PLA2G5 p.Ser124Asn Uncertain significance Single submitter
- PLA2G5 p.Ser14Thr Uncertain significance Single submitter
- PLA2G5 p.Thr83Ala Uncertain significance Single submitter
- PLA2G5 p.Tyr131His Uncertain significance Single submitter
- PLA2G5 p.Tyr71Cys Uncertain significance Single submitter
- PLA2G5 p.Tyr86Asn Uncertain significance Single submitter
- PLA2G5 p.Val115Ile Uncertain significance Single submitter
- PLA2G5 p.Val15Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- PLA2G5 p.Gly100Arg Uncertain significance Multiple submitters
- PLA2G5 p.Met28Val Uncertain significance Multiple submitters
- PLA2G5 p.Val115Leu Uncertain significance Multiple submitters
- PLA2G5 p.Asp24Tyr Uncertain significance Single submitter
- PLA2G5 p.Cys64Arg Uncertain significance Single submitter
- PLA2G5 p.Gln128Pro Uncertain significance Single submitter
- PLA2G5 p.Glu30Lys Uncertain significance Single submitter
- PLA2G5 p.His67Tyr Uncertain significance Single submitter
- PLA2G5 p.Ile29Thr Uncertain significance Single submitter
- PLA2G5 p.Leu136Pro Uncertain significance Single submitter
- PLA2G5 p.Ser14Asn Uncertain significance Single submitter
- PLA2G5 p.Tyr116Cys Uncertain significance Single submitter
- PLA2G5 p.Val115Phe Uncertain significance Single submitter
All PLA2G5 variants
Pathogenic 1
- p.Val94fs No assertion criteria late-onset retinal degeneration
Conflicting classifications of pathogenicity 8
- c.186-6G>A Single submitter
- p.Arg123Gln Single submitter ⚠
- p.Arg123Trp Single submitter ⚠
- p.Arg73Leu Single submitter ⚠
- p.Glu76del Single submitter
- p.Gly45Cys Single submitter PLA2G5-related disorders ⚠
- p.His104= Single submitter familial benign flecked retina
- p.Val94Leu Single submitter ⚠
Benign 4
- c.185+3G>A Multiple submitters
- c.292+19G>A Multiple submitters
- p.Cys48= Multiple submitters
- p.Gly3= Multiple submitters
Likely benign 35
- c.185+11C>T Multiple submitters
- c.185+12G>A Multiple submitters
- c.40+16G>A Multiple submitters
- p.Asn36= Multiple submitters
- p.Gln130= Multiple submitters
- p.Gly51= Multiple submitters
- p.Leu107= Multiple submitters
- p.Leu114= Multiple submitters
- p.Pro99= Multiple submitters
- c.185+19C>T Single submitter
- c.185+7T>G Single submitter
- c.186-19A>C Single submitter
- c.292+11G>T Single submitter
- c.292+13C>T Single submitter
- c.292+15T>C Single submitter
- c.292+18C>T Single submitter
- c.293-10C>G Single submitter
- c.293-9C>T Single submitter
- c.40+20C>T Single submitter
- c.41-7C>T Single submitter
- p.Ala109= Single submitter
- p.Ala17= Single submitter
- p.Ala91= Single submitter
- p.Arg112Gln Single submitter
- p.Asn134= Single submitter
- p.Glu75= Single submitter
- p.Ile135= Single submitter
- p.Leu5= Single submitter
- p.Pro16= Single submitter
- p.Thr60= Single submitter
- p.Thr83= Single submitter
- p.Thr96= Single submitter
- p.Tyr41= Single submitter
- p.Tyr44= Single submitter
- p.Tyr47= Single submitter
Uncertain significance 90
- p.Arg112Trp Multiple submitters ⚠
- p.Arg53Gln Multiple submitters ⚠
- p.Arg53Ter Multiple submitters familial benign flecked retina
- p.Asn134fs Multiple submitters
- p.Asn134Lys Multiple submitters ⚠
- p.Cys103Arg Multiple submitters ⚠
- p.Cys103Ter Multiple submitters
- p.Glu98Lys Multiple submitters ⚠
- p.Gly100Arg Multiple submitters ⚠
- p.Gly45Ser Multiple submitters ⚠
- p.Gly49Ser Multiple submitters familial benign flecked retina ⚠
- p.Gly52Ser Multiple submitters
- p.Lys119Arg Multiple submitters ⚠
- p.Lys31Glu Multiple submitters ⚠
- p.Met28Val Multiple submitters ⚠
- p.Pro16Leu Multiple submitters ⚠
- p.Pro6Ser Multiple submitters ⚠
- p.Val115Leu Multiple submitters ⚠
- c.186-11T>A Single submitter
- c.292+3A>C Single submitter
- c.292+6G>T Single submitter
- c.40+3A>G Single submitter
- p.Ala109Val Single submitter ⚠
- p.Ala37Gly Single submitter ⚠
- p.Ala91Val Single submitter ⚠
- p.Arg112Leu Single submitter ⚠
- p.Arg123Gly Single submitter ⚠
- p.Arg73Trp Single submitter ⚠
- p.Arg82His Single submitter ⚠
- p.Asn106fs Single submitter
- p.Asn121Ile Single submitter ⚠
- p.Asn126Lys Single submitter ⚠
- p.Asn134His Single submitter ⚠
- p.Asn36fs Single submitter
- p.Asp24Tyr Single submitter ⚠
- p.Asp58Gly Single submitter ⚠
- p.Asp61Asn Single submitter ⚠
- p.Cys117_Asn121delinsTer Single submitter
- p.Cys46Tyr Single submitter ⚠
- p.Cys48Gly Single submitter ⚠
- p.Cys63Tyr Single submitter ⚠
- p.Cys64Arg Single submitter ⚠
- p.Cys79Ser Single submitter ⚠
- p.Gln128Pro Single submitter ⚠
- p.Gln128Ter Single submitter
- p.Gln130Leu Single submitter ⚠
- p.Glu30Lys Single submitter ⚠
- p.Glu76Ter Single submitter
- p.Gly20Arg Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly21Val Single submitter ⚠
- p.Gly34= Single submitter
- p.Gly3Ala Single submitter
- p.Gly42Ser Single submitter ⚠
- p.Gly42Val Single submitter ⚠
- p.Gly52Asp Single submitter ⚠
- p.His104Pro Single submitter ⚠
- p.His67Tyr Single submitter ⚠
- p.Ile29Thr Single submitter ⚠
- p.Leu136Pro Single submitter ⚠
- p.Leu22Ser Single submitter ⚠
- p.Lys31Asn Single submitter ⚠
- p.Lys35Arg Single submitter ⚠
- p.Lys77Arg Single submitter ⚠
- p.Lys77del Single submitter
- p.Lys87Arg Single submitter ⚠
- p.Lys87Gln Single submitter ⚠
- p.Met1Val Single submitter
- p.Pro101Leu Single submitter ⚠
- p.Pro101Ser Single submitter ⚠
- p.Pro101Thr Single submitter ⚠
- p.Pro127Ala Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Pro99Ser Single submitter ⚠
- p.Ser124Asn Single submitter ⚠
- p.Ser14Asn Single submitter ⚠
- p.Ser14Thr Single submitter ⚠
- p.Ser85= Single submitter
- p.Ter139Trp Single submitter
- p.Thr83Ala Single submitter ⚠
- p.Trp92Ter Single submitter
- p.Tyr116Cys Single submitter ⚠
- p.Tyr129fs Single submitter
- p.Tyr131Cys Single submitter
- p.Tyr131His Single submitter ⚠
- p.Tyr71Cys Single submitter ⚠
- p.Tyr86Asn Single submitter ⚠
- p.Val115Ile Single submitter ⚠
- p.Val115Phe Single submitter ⚠
- p.Val15Met Single submitter ⚠