ACSM2A — 92 ClinVar variants

All ClinVar germline ACSM2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →

2 Benign · 7 Likely benign · 83 Uncertain significance

Full ACSM2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 79

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 52

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 27

The independent predictors disagree with each other — read with care.

All ACSM2A variants

Benign 2

p.Arg472Trp No assertion criteria Abnormality of neuronal migration ⚠
p.Tyr24Ter No assertion criteria Abnormality of neuronal migration

Likely benign 7

p.Glu173Asp Single submitter
p.Glu85Gln Single submitter
p.Gly250Asp Single submitter
p.Pro312= Single submitter
p.Trp120Ter Single submitter
p.Val401Ile Single submitter
p.Val500Ile Single submitter

Uncertain significance 83

p.Ala156Val Single submitter ⚠
p.Ala574Ser Single submitter ⚠
p.Ala60Thr Single submitter ⚠
p.Ala60Val Single submitter ⚠
p.Ala93Thr Single submitter ⚠
p.Arg105His Single submitter ⚠
p.Arg128Gln Single submitter
p.Arg21Cys Single submitter ⚠
p.Arg316Gln Single submitter ⚠
p.Arg316Trp Single submitter ⚠
p.Arg447Gln Single submitter ⚠
p.Arg447Trp Single submitter ⚠
p.Arg501Gln Single submitter ⚠
p.Arg501Gly Single submitter ⚠
p.Arg564Gln Single submitter ⚠
p.Arg575His Single submitter ⚠
p.Arg575Ser Single submitter ⚠
p.Arg84Lys Single submitter ⚠
p.Asn82His Single submitter ⚠
p.Asp409Ala Single submitter ⚠
p.Asp431Asn Single submitter ⚠
p.Asp451His Single submitter ⚠
p.Asp464Gly Single submitter
p.Asp52Ala Single submitter ⚠
p.Gln165Arg Single submitter ⚠
p.Gln252Glu Single submitter ⚠
p.Gln34Arg Single submitter ⚠
p.Gln528Lys Single submitter ⚠
p.Glu166Gly Single submitter ⚠
p.Gly102Asp Single submitter ⚠
p.Gly130Asp Single submitter ⚠
p.Gly211Ala Single submitter ⚠
p.Gly399Asp Single submitter ⚠
p.Gly405Ser Single submitter ⚠
p.Gly425Cys Single submitter ⚠
p.Gly99Arg Single submitter ⚠
p.His37Arg Single submitter ⚠
p.Ile123Asn Single submitter ⚠
p.Ile127Phe Single submitter ⚠
p.Ile145Thr Single submitter
p.Ile417Thr Single submitter ⚠
p.Ile466Val Single submitter ⚠
p.Leu182Pro Single submitter ⚠
p.Leu287Pro Single submitter ⚠
p.Leu444Pro Single submitter ⚠
p.Leu79Phe Single submitter ⚠
p.Leu86Met Single submitter ⚠
p.Lys153Glu Single submitter ⚠
p.Lys450Asn Single submitter ⚠
p.Lys557Asn Single submitter ⚠
p.Lys6Asn Single submitter ⚠
p.Met140Leu Single submitter ⚠
p.Met151Leu Single submitter ⚠
p.Met317Ile Single submitter ⚠
p.Met317Leu Single submitter ⚠
p.Met371Thr Single submitter ⚠
p.Met57Val Single submitter ⚠
p.Pro380Leu Single submitter ⚠
p.Pro380Ser Single submitter ⚠
p.Pro380Thr Single submitter ⚠
p.Pro404His Single submitter ⚠
p.Pro404Leu Single submitter ⚠
p.Pro41Gln Single submitter ⚠
p.Pro475His Single submitter
p.Pro537Leu Single submitter ⚠
p.Pro551Thr Single submitter ⚠
p.Ser176Pro Single submitter ⚠
p.Ser212Gly Single submitter ⚠
p.Ser340Phe Single submitter ⚠
p.Ser340Tyr Single submitter ⚠
p.Ser373Pro Single submitter ⚠
p.Ser469Ile Single submitter ⚠
p.Ser476Trp Single submitter ⚠
p.Ser98Leu Single submitter ⚠
p.Thr283Arg Single submitter ⚠
p.Thr299Ala Single submitter ⚠
p.Thr345Ala Single submitter ⚠
p.Thr353Lys Single submitter
p.Thr385Met Single submitter ⚠
p.Thr406Ile Single submitter ⚠
p.Tyr235Cys Single submitter ⚠
p.Tyr315Asn Single submitter ⚠
p.Val122Ala Single submitter ⚠