ACAA2 — 69 ClinVar variants
All ClinVar germline ACAA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
6 Benign · 1 Benign/Likely benign · 3 Likely benign · 59 Uncertain significance
Full ACAA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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.
- ACAA2 p.Ala250Thr Uncertain significance Single submitter
- ACAA2 p.Arg133His Uncertain significance Single submitter
- ACAA2 p.Arg371Leu Uncertain significance Single submitter
- ACAA2 p.Asp315Tyr Uncertain significance Single submitter
- ACAA2 p.Gln104Pro Uncertain significance Single submitter
- ACAA2 p.Glu120Lys Uncertain significance Single submitter
- ACAA2 p.Glu318Lys Uncertain significance Single submitter
- ACAA2 p.Glu368Lys Uncertain significance Single submitter
- ACAA2 p.Gly135Glu Uncertain significance Single submitter
- ACAA2 p.Gly248Glu Uncertain significance Single submitter
- ACAA2 p.Gly256Asp Uncertain significance Single submitter
- ACAA2 p.Gly57Val Uncertain significance Single submitter
- ACAA2 p.Ile206Val Uncertain significance Single submitter
- ACAA2 p.Ile383Val Uncertain significance Single submitter
- ACAA2 p.Ile67Met Uncertain significance Single submitter
- ACAA2 p.Leu354Gln Uncertain significance Single submitter
- ACAA2 p.Leu41Ser Uncertain significance Single submitter
- ACAA2 p.Lys109Arg Uncertain significance Single submitter
- ACAA2 p.Met203Val Uncertain significance Single submitter
- ACAA2 p.Met217Thr Uncertain significance Single submitter
- ACAA2 p.Phe199Leu Uncertain significance Single submitter
- ACAA2 p.Thr28Ile Uncertain significance Single submitter
- ACAA2 p.Thr87Arg Uncertain significance Single submitter
- ACAA2 p.Trp149Arg Uncertain significance Single submitter
- ACAA2 p.Val129Ile Uncertain significance Single submitter
- ACAA2 p.Val150Ile Uncertain significance Single submitter
- ACAA2 p.Val319Leu Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- ACAA2 p.Ala183Thr Uncertain significance Single submitter
- ACAA2 p.Ala196Thr Uncertain significance Single submitter
- ACAA2 p.Ala267Gly Uncertain significance Single submitter
- ACAA2 p.Ala70Ser Uncertain significance Single submitter
- ACAA2 p.Arg371Cys Uncertain significance Single submitter
- ACAA2 p.Arg372Gln Uncertain significance Single submitter
- ACAA2 p.Arg372Leu Uncertain significance Single submitter
- ACAA2 p.Arg5Leu Uncertain significance Single submitter
- ACAA2 p.Arg76Cys Uncertain significance Single submitter
- ACAA2 p.Asn200His Uncertain significance Single submitter
- ACAA2 p.Glu34Gln Uncertain significance Single submitter
- ACAA2 p.Gly374Ala Uncertain significance Single submitter
- ACAA2 p.His156Asp Uncertain significance Single submitter
- ACAA2 p.Ile142Thr Uncertain significance Single submitter
- ACAA2 p.Ile206Phe Uncertain significance Single submitter
- ACAA2 p.Ile294Val Uncertain significance Single submitter
- ACAA2 p.Leu32Val Uncertain significance Single submitter
- ACAA2 p.Lys137Thr Uncertain significance Single submitter
- ACAA2 p.Lys181Arg Uncertain significance Single submitter
- ACAA2 p.Lys312Asn Uncertain significance Single submitter
- ACAA2 p.Lys312Thr Uncertain significance Single submitter
- ACAA2 p.Lys45Glu Uncertain significance Single submitter
- ACAA2 p.Pro48Thr Uncertain significance Single submitter
- ACAA2 p.Thr274Ile Uncertain significance Single submitter
- ACAA2 p.Trp149Gly Uncertain significance Single submitter
- ACAA2 p.Tyr127Cys Uncertain significance Single submitter
- ACAA2 p.Val10Ala Uncertain significance Single submitter
- ACAA2 p.Val114Leu Uncertain significance Single submitter
- ACAA2 p.Val219Ala Uncertain significance Single submitter
- ACAA2 p.Val238Ile Uncertain significance Single submitter
- ACAA2 p.Val378Ala Uncertain significance Single submitter
- ACAA2 p.Val378Ile Likely benign Single submitter
- ACAA2 p.Val378Leu Uncertain significance Single submitter
All ACAA2 variants
Benign 6
- p.Tyr198Asn Multiple submitters
- c.16+17C>T Single submitter
- c.753+19A>T Single submitter
- c.954+18T>G Single submitter
- c.954+30del Single submitter
- p.Met217Val Single submitter
Benign/Likely benign 1
- c.954+18_954+19insG Multiple submitters
Likely benign 3
- c.954+29_954+30del Single submitter
- p.Val253Ile Single submitter
- p.Val378Ile Single submitter ⚠
Uncertain significance 59
- p.Ala183Thr Single submitter ⚠
- p.Ala196Thr Single submitter ⚠
- p.Ala250Thr Single submitter ⚠
- p.Ala267Gly Single submitter ⚠
- p.Ala70Ser Single submitter ⚠
- p.Arg133His Single submitter ⚠
- p.Arg371Cys Single submitter ⚠
- p.Arg371Leu Single submitter ⚠
- p.Arg372Gln Single submitter ⚠
- p.Arg372Leu Single submitter ⚠
- p.Arg5Leu Single submitter ⚠
- p.Arg76Cys Single submitter ⚠
- p.Asn200His Single submitter ⚠
- p.Asp315Tyr Single submitter ⚠
- p.Gln104Pro Single submitter ⚠
- p.Glu120Lys Single submitter ⚠
- p.Glu318Lys Single submitter ⚠
- p.Glu34Gln Single submitter ⚠
- p.Glu368Lys Single submitter ⚠
- p.Gly135Glu Single submitter ⚠
- p.Gly248Glu Single submitter ⚠
- p.Gly256Asp Single submitter ⚠
- p.Gly374Ala Single submitter ⚠
- p.Gly57Val Single submitter ⚠
- p.His156Asp Single submitter ⚠
- p.Ile142Thr Single submitter ⚠
- p.Ile206Phe Single submitter ⚠
- p.Ile206Val Single submitter ⚠
- p.Ile294Val Single submitter ⚠
- p.Ile383Val Single submitter ⚠
- p.Ile67Met Single submitter ⚠
- p.Leu32Val Single submitter ⚠
- p.Leu354Gln Single submitter ⚠
- p.Leu41Ser Single submitter ⚠
- p.Lys109Arg Single submitter ⚠
- p.Lys137Thr Single submitter ⚠
- p.Lys181Arg Single submitter ⚠
- p.Lys312Asn Single submitter ⚠
- p.Lys312Thr Single submitter ⚠
- p.Lys45Glu Single submitter ⚠
- p.Met203Val Single submitter ⚠
- p.Met217Thr Single submitter ⚠
- p.Phe199Leu Single submitter ⚠
- p.Pro48Thr Single submitter ⚠
- p.Thr274Ile Single submitter ⚠
- p.Thr28Ile Single submitter ⚠
- p.Thr87Arg Single submitter ⚠
- p.Trp149Arg Single submitter ⚠
- p.Trp149Gly Single submitter ⚠
- p.Tyr127Cys Single submitter ⚠
- p.Val10Ala Single submitter ⚠
- p.Val114Leu Single submitter ⚠
- p.Val129Ile Single submitter ⚠
- p.Val150Ile Single submitter ⚠
- p.Val219Ala Single submitter ⚠
- p.Val238Ile Single submitter ⚠
- p.Val319Leu Single submitter ⚠
- p.Val378Ala Single submitter ⚠
- p.Val378Leu Single submitter ⚠