ACSM5 — 87 ClinVar variants
All ClinVar germline ACSM5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →
2 Benign · 6 Likely benign · 79 Uncertain significance
Full ACSM5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 80
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACSM5 p.Ala160Val Uncertain significance Single submitter
- ACSM5 p.Arg257Trp Uncertain significance Single submitter
- ACSM5 p.Arg470Ile Uncertain significance Single submitter
- ACSM5 p.Arg470Lys Uncertain significance Single submitter
- ACSM5 p.Asn82Ser Uncertain significance Single submitter
- ACSM5 p.Asp462Glu Uncertain significance Single submitter
- ACSM5 p.Cys135Phe Uncertain significance Single submitter
- ACSM5 p.Cys135Tyr Uncertain significance Single submitter
- ACSM5 p.Gln187Lys Uncertain significance Single submitter
- ACSM5 p.Gln575Arg Uncertain significance Single submitter
- ACSM5 p.Glu209Asp Uncertain significance Single submitter
- ACSM5 p.Glu209Lys Uncertain significance Single submitter
- ACSM5 p.Glu407Lys Uncertain significance Single submitter
- ACSM5 p.Glu446Lys Uncertain significance Single submitter
- ACSM5 p.Gly107Arg Uncertain significance Single submitter
- ACSM5 p.Gly248Arg Uncertain significance Single submitter
- ACSM5 p.Gly511Val Uncertain significance Single submitter
- ACSM5 p.Ile266Val Uncertain significance Single submitter
- ACSM5 p.Ile305Val Uncertain significance Single submitter
- ACSM5 p.Ile314Val Uncertain significance Single submitter
- ACSM5 p.Ile35Val Uncertain significance Single submitter
- ACSM5 p.Ile509Thr Uncertain significance Single submitter
- ACSM5 p.Met217Thr Uncertain significance Single submitter
- ACSM5 p.Pro550Ala Uncertain significance Single submitter
- ACSM5 p.Pro550Ser Uncertain significance Single submitter
- ACSM5 p.Pro74Arg Uncertain significance Single submitter
- ACSM5 p.Ser161Phe Uncertain significance Single submitter
- ACSM5 p.Thr375Ala Uncertain significance Single submitter
- ACSM5 p.Trp358Cys Uncertain significance Single submitter
- ACSM5 p.Trp80Leu Uncertain significance Single submitter
- ACSM5 p.Tyr367Cys Uncertain significance Single submitter
- ACSM5 p.Tyr435Cys Uncertain significance Single submitter
- ACSM5 p.Tyr547His Uncertain significance Single submitter
- ACSM5 p.Val131Leu Uncertain significance Single submitter
- ACSM5 p.Val276Gly Uncertain significance Single submitter
- ACSM5 p.Val304Ala Uncertain significance Single submitter
- ACSM5 p.Val474Glu Uncertain significance Single submitter
- ACSM5 p.Val514Leu Uncertain significance Single submitter
- ACSM5 p.Val540Glu Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
- ACSM5 p.Ala163Ser Uncertain significance Single submitter
- ACSM5 p.Ala420Val Likely benign Single submitter
- ACSM5 p.Arg100Ser Uncertain significance Single submitter
- ACSM5 p.Arg157Trp Uncertain significance Single submitter
- ACSM5 p.Arg197Trp Uncertain significance Single submitter
- ACSM5 p.Arg208Trp Uncertain significance Single submitter
- ACSM5 p.Arg458Leu Uncertain significance Single submitter
- ACSM5 p.Asn104His Uncertain significance Single submitter
- ACSM5 p.Asp405Gly Uncertain significance Single submitter
- ACSM5 p.Asp449Asn Uncertain significance Single submitter
- ACSM5 p.Gln336Pro Uncertain significance Single submitter
- ACSM5 p.Gln361Pro Uncertain significance Single submitter
- ACSM5 p.Glu213Ala Uncertain significance Single submitter
- ACSM5 p.Glu263Gln Uncertain significance Single submitter
- ACSM5 p.Glu538Lys Uncertain significance Single submitter
- ACSM5 p.Gly255Arg Uncertain significance Single submitter
- ACSM5 p.Gly363Ser Uncertain significance Single submitter
- ACSM5 p.Gly408Asp Uncertain significance Single submitter
- ACSM5 p.Ile403Thr Uncertain significance Single submitter
- ACSM5 p.Leu282Pro Uncertain significance Single submitter
- ACSM5 p.Leu309Phe Uncertain significance Single submitter
- ACSM5 p.Leu332Val Uncertain significance Single submitter
- ACSM5 p.Leu520Val Uncertain significance Single submitter
- ACSM5 p.Lys155Gln Uncertain significance Single submitter
- ACSM5 p.Pro114Ser Uncertain significance Single submitter
- ACSM5 p.Pro123Leu Uncertain significance Single submitter
- ACSM5 p.Pro144Leu Uncertain significance Single submitter
- ACSM5 p.Pro425Arg Uncertain significance Single submitter
- ACSM5 p.Pro76Thr Uncertain significance Single submitter
- ACSM5 p.Ser195Cys Uncertain significance Single submitter
- ACSM5 p.Ser196Gly Uncertain significance Single submitter
- ACSM5 p.Ser254Gly Uncertain significance Single submitter
- ACSM5 p.Ser264Tyr Uncertain significance Single submitter
- ACSM5 p.Ser310Pro Uncertain significance Single submitter
- ACSM5 p.Ser339Gly Uncertain significance Single submitter
- ACSM5 p.Thr308Ile Uncertain significance Single submitter
- ACSM5 p.Thr345Pro Uncertain significance Single submitter
- ACSM5 p.Thr533Met Uncertain significance Single submitter
- ACSM5 p.Thr562Met Uncertain significance Single submitter
- ACSM5 p.Trp286Leu Uncertain significance Single submitter
- ACSM5 p.Val354Met Uncertain significance Single submitter
All ACSM5 variants
Benign 2
- c.1001+10G>A Multiple submitters
- p.His360Arg Multiple submitters
Likely benign 6
- p.Ala420Val Single submitter ⚠
- p.Asp353= Single submitter
- p.Ile88Val Single submitter
- p.Leu48Pro Single submitter
- p.Phe55= Single submitter
- p.Val421Ile Single submitter
Uncertain significance 79
- p.Ala160Val Single submitter ⚠
- p.Ala163Ser Single submitter ⚠
- p.Arg100Ser Single submitter ⚠
- p.Arg157Trp Single submitter ⚠
- p.Arg197Trp Single submitter ⚠
- p.Arg208Trp Single submitter ⚠
- p.Arg257Trp Single submitter ⚠
- p.Arg458Leu Single submitter ⚠
- p.Arg470Ile Single submitter ⚠
- p.Arg470Lys Single submitter ⚠
- p.Asn104His Single submitter ⚠
- p.Asn82Ser Single submitter ⚠
- p.Asp405Gly Single submitter ⚠
- p.Asp449Asn Single submitter ⚠
- p.Asp462Glu Single submitter ⚠
- p.Cys135Phe Single submitter ⚠
- p.Cys135Tyr Single submitter ⚠
- p.Gln187Lys Single submitter ⚠
- p.Gln336Pro Single submitter ⚠
- p.Gln361Pro Single submitter ⚠
- p.Gln575Arg Single submitter ⚠
- p.Glu209Asp Single submitter ⚠
- p.Glu209Lys Single submitter ⚠
- p.Glu213Ala Single submitter ⚠
- p.Glu263Gln Single submitter ⚠
- p.Glu407Lys Single submitter ⚠
- p.Glu446Lys Single submitter ⚠
- p.Glu538Lys Single submitter ⚠
- p.Gly107Arg Single submitter ⚠
- p.Gly248Arg Single submitter ⚠
- p.Gly255Arg Single submitter ⚠
- p.Gly363Ser Single submitter ⚠
- p.Gly408Asp Single submitter ⚠
- p.Gly511Val Single submitter ⚠
- p.Ile266Val Single submitter ⚠
- p.Ile305Val Single submitter ⚠
- p.Ile314Val Single submitter ⚠
- p.Ile35Val Single submitter ⚠
- p.Ile403Thr Single submitter ⚠
- p.Ile509Thr Single submitter ⚠
- p.Leu282Pro Single submitter ⚠
- p.Leu309Phe Single submitter ⚠
- p.Leu332Val Single submitter ⚠
- p.Leu520Val Single submitter ⚠
- p.Lys155Gln Single submitter ⚠
- p.Met217Thr Single submitter ⚠
- p.Pro114Ser Single submitter ⚠
- p.Pro123Leu Single submitter ⚠
- p.Pro144Leu Single submitter ⚠
- p.Pro425Arg Single submitter ⚠
- p.Pro550Ala Single submitter ⚠
- p.Pro550Ser Single submitter ⚠
- p.Pro74Arg Single submitter ⚠
- p.Pro76Thr Single submitter ⚠
- p.Ser161Phe Single submitter ⚠
- p.Ser195Cys Single submitter ⚠
- p.Ser196Gly Single submitter ⚠
- p.Ser254Gly Single submitter ⚠
- p.Ser264Tyr Single submitter ⚠
- p.Ser310Pro Single submitter ⚠
- p.Ser339Gly Single submitter ⚠
- p.Thr308Ile Single submitter ⚠
- p.Thr345Pro Single submitter ⚠
- p.Thr375Ala Single submitter ⚠
- p.Thr533Met Single submitter ⚠
- p.Thr562Met Single submitter ⚠
- p.Trp286Leu Single submitter ⚠
- p.Trp358Cys Single submitter ⚠
- p.Trp80Leu Single submitter ⚠
- p.Tyr367Cys Single submitter ⚠
- p.Tyr435Cys Single submitter ⚠
- p.Tyr547His Single submitter ⚠
- p.Val131Leu Single submitter ⚠
- p.Val276Gly Single submitter ⚠
- p.Val304Ala Single submitter ⚠
- p.Val354Met Single submitter ⚠
- p.Val474Glu Single submitter ⚠
- p.Val514Leu Single submitter ⚠
- p.Val540Glu Single submitter ⚠