ACSM2B — 63 ClinVar variants
All ClinVar germline ACSM2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
3 Benign · 3 Likely benign · 57 Uncertain significance
Full ACSM2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACSM2B p.Ala387Val Uncertain significance Single submitter
- ACSM2B p.Arg461Gln Uncertain significance Single submitter
- ACSM2B p.Arg461Trp Uncertain significance Single submitter
- ACSM2B p.Asn82Thr Uncertain significance Single submitter
- ACSM2B p.Gln34His Uncertain significance Single submitter
- ACSM2B p.Gln91Arg Uncertain significance Single submitter
- ACSM2B p.Glu339Ala Uncertain significance Single submitter
- ACSM2B p.Gly130Asp Uncertain significance Single submitter
- ACSM2B p.Gly223Ala Uncertain significance Single submitter
- ACSM2B p.Ile395Thr Uncertain significance Single submitter
- ACSM2B p.Leu331Gln Uncertain significance Single submitter
- ACSM2B p.Lys484Arg Uncertain significance Single submitter
- ACSM2B p.Met112Leu Uncertain significance Single submitter
- ACSM2B p.Met151Ile Uncertain significance Single submitter
- ACSM2B p.Met151Lys Uncertain significance Single submitter
- ACSM2B p.Met244Val Uncertain significance Single submitter
- ACSM2B p.Met376Val Uncertain significance Single submitter
- ACSM2B p.Pro475His Uncertain significance Single submitter
- ACSM2B p.Ser176Ala Uncertain significance Single submitter
- ACSM2B p.Ser216Thr Uncertain significance Single submitter
- ACSM2B p.Ser254Cys Uncertain significance Single submitter
- ACSM2B p.Ser571Thr Uncertain significance Single submitter
- ACSM2B p.Trp3Ser Uncertain significance Single submitter
- ACSM2B p.Val163Ile Uncertain significance Single submitter
- ACSM2B p.Val394Asp Uncertain significance Single submitter
- ACSM2B p.Val394Ile Uncertain significance Single submitter
- ACSM2B p.Val493Glu Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- ACSM2B p.Ala231Ser Uncertain significance Single submitter
- ACSM2B p.Ala487Asp Uncertain significance Single submitter
- ACSM2B p.Arg148Lys Uncertain significance Single submitter
- ACSM2B p.Arg447Gln Uncertain significance Single submitter
- ACSM2B p.Arg447Trp Uncertain significance Single submitter
- ACSM2B p.Arg5Gln Uncertain significance Single submitter
- ACSM2B p.Asp322Tyr Uncertain significance Single submitter
- ACSM2B p.Asp409Gly Uncertain significance Single submitter
- ACSM2B p.Asp519Glu Uncertain significance Single submitter
- ACSM2B p.Cys282Phe Uncertain significance Single submitter
- ACSM2B p.Cys370Gly Uncertain significance Single submitter
- ACSM2B p.Gln139Lys Uncertain significance Single submitter
- ACSM2B p.Glu88Gly Uncertain significance Single submitter
- ACSM2B p.His53Leu Uncertain significance Single submitter
- ACSM2B p.Leu149Val Uncertain significance Single submitter
- ACSM2B p.Leu86Val Uncertain significance Single submitter
- ACSM2B p.Lys450Thr Uncertain significance Single submitter
- ACSM2B p.Met230Leu Uncertain significance Single submitter
- ACSM2B p.Phe83Ile Uncertain significance Single submitter
- ACSM2B p.Pro175Ala Uncertain significance Single submitter
- ACSM2B p.Pro416Arg Uncertain significance Single submitter
- ACSM2B p.Pro41Leu Uncertain significance Single submitter
- ACSM2B p.Ser324Cys Uncertain significance Single submitter
- ACSM2B p.Ser373Phe Uncertain significance Single submitter
- ACSM2B p.Ser468Cys Uncertain significance Single submitter
- ACSM2B p.Ser496Asn Uncertain significance Single submitter
- ACSM2B p.Thr385Met Uncertain significance Single submitter
- ACSM2B p.Thr433Ile Uncertain significance Single submitter
- ACSM2B p.Trp442Arg Likely benign Single submitter
- ACSM2B p.Tyr326Cys Uncertain significance Single submitter
- ACSM2B p.Val167Leu Uncertain significance Single submitter
All ACSM2B variants
Benign 3
- p.Ile305Val Multiple submitters
- p.Pro312= Multiple submitters
- p.Ser272= Multiple submitters
Likely benign 3
- p.Asn199Lys Single submitter
- p.Ser66Gly Single submitter
- p.Trp442Arg Single submitter ⚠
Uncertain significance 57
- p.Ala231Ser Single submitter ⚠
- p.Ala387Val Single submitter ⚠
- p.Ala487Asp Single submitter ⚠
- p.Arg148Lys Single submitter ⚠
- p.Arg447Gln Single submitter ⚠
- p.Arg447Trp Single submitter ⚠
- p.Arg461Gln Single submitter ⚠
- p.Arg461Trp Single submitter ⚠
- p.Arg5Gln Single submitter ⚠
- p.Asn82Thr Single submitter ⚠
- p.Asp322Tyr Single submitter ⚠
- p.Asp409Gly Single submitter ⚠
- p.Asp519Glu Single submitter ⚠
- p.Cys282Phe Single submitter ⚠
- p.Cys370Gly Single submitter ⚠
- p.Gln139Lys Single submitter ⚠
- p.Gln34His Single submitter ⚠
- p.Gln91Arg Single submitter ⚠
- p.Glu339Ala Single submitter ⚠
- p.Glu88Gly Single submitter ⚠
- p.Gly130Asp Single submitter ⚠
- p.Gly223Ala Single submitter ⚠
- p.His53Leu Single submitter ⚠
- p.Ile395Thr Single submitter ⚠
- p.Leu149Val Single submitter ⚠
- p.Leu331Gln Single submitter ⚠
- p.Leu86Val Single submitter ⚠
- p.Lys450Thr Single submitter ⚠
- p.Lys484Arg Single submitter ⚠
- p.Met112Leu Single submitter ⚠
- p.Met151Ile Single submitter ⚠
- p.Met151Lys Single submitter ⚠
- p.Met230Leu Single submitter ⚠
- p.Met244Val Single submitter ⚠
- p.Met376Val Single submitter ⚠
- p.Phe83Ile Single submitter ⚠
- p.Pro175Ala Single submitter ⚠
- p.Pro416Arg Single submitter ⚠
- p.Pro41Leu Single submitter ⚠
- p.Pro475His Single submitter ⚠
- p.Ser176Ala Single submitter ⚠
- p.Ser216Thr Single submitter ⚠
- p.Ser254Cys Single submitter ⚠
- p.Ser324Cys Single submitter ⚠
- p.Ser373Phe Single submitter ⚠
- p.Ser468Cys Single submitter ⚠
- p.Ser496Asn Single submitter ⚠
- p.Ser571Thr Single submitter ⚠
- p.Thr385Met Single submitter ⚠
- p.Thr433Ile Single submitter ⚠
- p.Trp3Ser Single submitter ⚠
- p.Tyr326Cys Single submitter ⚠
- p.Val163Ile Single submitter ⚠
- p.Val167Leu Single submitter ⚠
- p.Val394Asp Single submitter ⚠
- p.Val394Ile Single submitter ⚠
- p.Val493Glu Single submitter ⚠