PGAM5 — 63 ClinVar variants
All ClinVar germline PGAM5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
24 Benign · 1 Likely benign · 38 Uncertain significance
Full PGAM5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PGAM5 p.Ala128Val Uncertain significance Single submitter
- PGAM5 p.Arg162Gln Uncertain significance Single submitter
- PGAM5 p.Arg176Gln Uncertain significance Single submitter
- PGAM5 p.Arg98Trp Uncertain significance Single submitter
- PGAM5 p.Asn210Ser Uncertain significance Single submitter
- PGAM5 p.Asn72Ser Uncertain significance Single submitter
- PGAM5 p.Asn77Ser Uncertain significance Single submitter
- PGAM5 p.Asp277Glu Uncertain significance Single submitter
- PGAM5 p.Asp90His Uncertain significance Single submitter
- PGAM5 p.Cys168Tyr Uncertain significance Single submitter
- PGAM5 p.Gly81Arg Uncertain significance Single submitter
- PGAM5 p.Gly81Glu Uncertain significance Single submitter
- PGAM5 p.His91Arg Uncertain significance Single submitter
- PGAM5 p.Ile181Val Uncertain significance Single submitter
- PGAM5 p.Lys141Gln Uncertain significance Single submitter
- PGAM5 p.Pro55Arg Uncertain significance Single submitter
- PGAM5 p.Ser113Phe Uncertain significance Single submitter
- PGAM5 p.Ser161Asn Uncertain significance Single submitter
- PGAM5 p.Ser223Thr Uncertain significance Single submitter
- PGAM5 p.Thr151Met Uncertain significance Single submitter
- PGAM5 p.Thr274Asn Uncertain significance Single submitter
- PGAM5 p.Tyr197His Uncertain significance Single submitter
- PGAM5 p.Tyr236His Uncertain significance Single submitter
- PGAM5 p.Val167Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- PGAM5 p.Arg118Cys Uncertain significance Single submitter
- PGAM5 p.Arg74Trp Uncertain significance Single submitter
- PGAM5 p.Leu254Val Uncertain significance Single submitter
- PGAM5 p.Phe101Leu Uncertain significance Single submitter
- PGAM5 p.Phe227Leu Uncertain significance Single submitter
- PGAM5 p.Pro122Leu Uncertain significance Single submitter
- PGAM5 p.Pro165Ser Uncertain significance Single submitter
- PGAM5 p.Thr260Ser Uncertain significance Single submitter
All PGAM5 variants
Benign 24
- c.191+177G>A Multiple submitters
- c.191+68A>G Multiple submitters
- c.497-65G>T Multiple submitters
- c.719+22C>T Multiple submitters
- c.719+63A>G Multiple submitters
- c.719+647C>T Multiple submitters
- c.719+676C>G Multiple submitters
- c.719+795T>C Multiple submitters
- c.720-161T>C Multiple submitters
- c.720-67C>T Multiple submitters
- c.720-82A>G Multiple submitters
- c.720-93T>C Multiple submitters
- c.*261T>C Multiple submitters
- p.Glu225= Multiple submitters
- p.Gly178= Multiple submitters
- p.Lys191Arg Multiple submitters
- p.Tyr198= Multiple submitters
- c.370+257G>A Single submitter
- c.370+59_370+60insCTC Single submitter
- c.371-140C>A Single submitter
- c.371-297G>C Single submitter
- c.719+516_719+517insT Single submitter
- c.720-209A>G Single submitter
- c.720-226T>C Single submitter
Likely benign 1
- p.Arg214= Single submitter
Uncertain significance 38
- p.Ala128Val Single submitter ⚠
- p.Arg118Cys Single submitter ⚠
- p.Arg162Gln Single submitter ⚠
- p.Arg176Gln Single submitter ⚠
- p.Arg74Trp Single submitter ⚠
- p.Arg98Trp Single submitter ⚠
- p.Asn210Ser Single submitter ⚠
- p.Asn72Ser Single submitter ⚠
- p.Asn77Ser Single submitter ⚠
- p.Asp277Glu Single submitter ⚠
- p.Asp90His Single submitter ⚠
- p.Cys168Tyr Single submitter ⚠
- p.Glu115Gln Single submitter
- p.Glu66Gly Single submitter
- p.Gly139Glu Single submitter
- p.Gly81Arg Single submitter ⚠
- p.Gly81Glu Single submitter ⚠
- p.His213Tyr Single submitter
- p.His91Arg Single submitter ⚠
- p.Ile181Val Single submitter ⚠
- p.Leu254Val Single submitter ⚠
- p.Lys141Gln Single submitter ⚠
- p.Phe101Leu Single submitter ⚠
- p.Phe227Leu Single submitter ⚠
- p.Pro122Leu Single submitter ⚠
- p.Pro165Ser Single submitter ⚠
- p.Pro55Arg Single submitter ⚠
- p.Ser113Phe Single submitter ⚠
- p.Ser161Asn Single submitter ⚠
- p.Ser223Thr Single submitter ⚠
- p.Thr151Met Single submitter ⚠
- p.Thr260Ser Single submitter ⚠
- p.Thr274Asn Single submitter ⚠
- p.Thr97Met Single submitter
- p.Tyr197His Single submitter ⚠
- p.Tyr236His Single submitter ⚠
- p.Val167Ile Single submitter ⚠
- p.Val270Ile Single submitter