ACAT2 — 71 ClinVar variants
All ClinVar germline ACAT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
1 Pathogenic · 6 Benign · 9 Likely benign · 55 Uncertain significance
Full ACAT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACAT2 p.Asn191Lys Uncertain significance Single submitter
- ACAT2 p.Cys65Gly Uncertain significance Single submitter
- ACAT2 p.Gln395Glu Uncertain significance Single submitter
- ACAT2 p.Glu289Asp Uncertain significance Single submitter
- ACAT2 p.Glu322Asp Uncertain significance Single submitter
- ACAT2 p.Gly34Arg Uncertain significance Single submitter
- ACAT2 p.Gly385Ala Uncertain significance Single submitter
- ACAT2 p.His224Gln Uncertain significance Single submitter
- ACAT2 p.His224Tyr Uncertain significance Single submitter
- ACAT2 p.Leu351Trp Uncertain significance Single submitter
- ACAT2 p.Met140Ile Uncertain significance Single submitter
- ACAT2 p.Met140Lys Uncertain significance Single submitter
- ACAT2 p.Met392Leu Uncertain significance Single submitter
- ACAT2 p.Pro290Ser Uncertain significance Single submitter
- ACAT2 p.Ser145Gly Uncertain significance Single submitter
- ACAT2 p.Thr240Ser Uncertain significance Single submitter
- ACAT2 p.Tyr237His Uncertain significance Single submitter
- ACAT2 p.Val103Ile Uncertain significance Single submitter
- ACAT2 p.Val115Asp Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- ACAT2 p.Ala230Pro Uncertain significance Single submitter
- ACAT2 p.Ala323Gly Uncertain significance Single submitter
- ACAT2 p.Ala330Val Uncertain significance Single submitter
- ACAT2 p.Ala348Ser Uncertain significance Single submitter
- ACAT2 p.Ala357Gly Uncertain significance Single submitter
- ACAT2 p.Arg223His Uncertain significance Single submitter
- ACAT2 p.Arg272Cys Uncertain significance Single submitter
- ACAT2 p.Arg377Cys Uncertain significance Single submitter
- ACAT2 p.Asn166His Uncertain significance Single submitter
- ACAT2 p.Asn166Ile Uncertain significance Single submitter
- ACAT2 p.Asn22Ser Uncertain significance Single submitter
- ACAT2 p.Asn22Thr Uncertain significance Single submitter
- ACAT2 p.Asn321Ser Uncertain significance Single submitter
- ACAT2 p.Asp199His Uncertain significance Single submitter
- ACAT2 p.Cys158Arg Uncertain significance Single submitter
-
ACAT2 p.Glu176Lys
Uncertain significance
Single submitter
acetyl-CoA acetyltransferase-2 deficiency
- ACAT2 p.Glu50Ala Uncertain significance Single submitter
- ACAT2 p.Gly225Glu Uncertain significance Single submitter
- ACAT2 p.Gly287Ser Uncertain significance Single submitter
- ACAT2 p.His159Tyr Uncertain significance Single submitter
- ACAT2 p.Ile18Thr Uncertain significance Single submitter
- ACAT2 p.Ile202Asn Uncertain significance Single submitter
- ACAT2 p.Leu366Val Uncertain significance Single submitter
- ACAT2 p.Lys211Arg Benign Single submitter
- ACAT2 p.Lys266Asn Uncertain significance Single submitter
- ACAT2 p.Met264Leu Uncertain significance Single submitter
- ACAT2 p.Pro204Gln Uncertain significance Single submitter
- ACAT2 p.Pro299Leu Uncertain significance Single submitter
- ACAT2 p.Pro29Ala Uncertain significance Single submitter
- ACAT2 p.Pro84Ser Uncertain significance Single submitter
- ACAT2 p.Ser284Cys Benign Single submitter
- ACAT2 p.Ser376Gly Uncertain significance Single submitter
- ACAT2 p.Thr218Ile Uncertain significance Single submitter
- ACAT2 p.Thr243Met Uncertain significance Single submitter
- ACAT2 p.Val262Ile Uncertain significance Single submitter
- ACAT2 p.Val379Ile Uncertain significance Single submitter
- ACAT2 p.Val99Met Uncertain significance Single submitter
All ACAT2 variants
Pathogenic 1
- c.(72+1_73-1 Single submitter beta-ketothiolase deficiency
Benign 6
- c.1024-4T>C Single submitter
- p.Ala195= Single submitter
- p.Gly273= Single submitter
- p.Lys211Arg Single submitter ⚠
- p.Ser284Cys Single submitter ⚠
- p.Val261= Single submitter
Likely benign 9
- c.1024-5G>A Single submitter
- c.490+12A>G Single submitter
- c.56-189G>A Single submitter
- p.Asn157= Single submitter
- p.Ile214= Single submitter
- p.Leu151= Single submitter
- p.Met373Thr Single submitter
- p.Thr369Ala Single submitter
- p.Val286Ala Single submitter
Uncertain significance 55
- p.Ala230Pro Single submitter ⚠
- p.Ala323Gly Single submitter ⚠
- p.Ala330Val Single submitter ⚠
- p.Ala348Ser Single submitter ⚠
- p.Ala357Gly Single submitter ⚠
- p.Arg223His Single submitter ⚠
- p.Arg272Cys Single submitter ⚠
- p.Arg377Cys Single submitter ⚠
- p.Asn166His Single submitter ⚠
- p.Asn166Ile Single submitter ⚠
- p.Asn191Lys Single submitter ⚠
- p.Asn22Ser Single submitter ⚠
- p.Asn22Thr Single submitter ⚠
- p.Asn321Ser Single submitter ⚠
- p.Asp199His Single submitter ⚠
- p.Cys158Arg Single submitter ⚠
- p.Cys65Gly Single submitter ⚠
- p.Gln395Glu Single submitter ⚠
- p.Glu176Lys Single submitter acetyl-CoA acetyltransferase-2 deficiency ⚠
- p.Glu289Asp Single submitter ⚠
- p.Glu322Asp Single submitter ⚠
- p.Glu397fs Single submitter ZTTK syndrome
- p.Glu50Ala Single submitter ⚠
- p.Gly225Glu Single submitter ⚠
- p.Gly287Ser Single submitter ⚠
- p.Gly34Arg Single submitter ⚠
- p.Gly385Ala Single submitter ⚠
- p.His159Tyr Single submitter ⚠
- p.His224Gln Single submitter ⚠
- p.His224Tyr Single submitter ⚠
- p.Ile18Thr Single submitter ⚠
- p.Ile202Asn Single submitter ⚠
- p.Leu351Trp Single submitter ⚠
- p.Leu366Val Single submitter ⚠
- p.Lys266Asn Single submitter ⚠
- p.Met140Ile Single submitter ⚠
- p.Met140Lys Single submitter ⚠
- p.Met264Leu Single submitter ⚠
- p.Met392Leu Single submitter ⚠
- p.Pro204Gln Single submitter ⚠
- p.Pro290Ser Single submitter ⚠
- p.Pro299Leu Single submitter ⚠
- p.Pro29Ala Single submitter ⚠
- p.Pro84Ser Single submitter ⚠
- p.Ser145Gly Single submitter ⚠
- p.Ser376Gly Single submitter ⚠
- p.Thr218Ile Single submitter ⚠
- p.Thr240Ser Single submitter ⚠
- p.Thr243Met Single submitter ⚠
- p.Tyr237His Single submitter ⚠
- p.Val103Ile Single submitter ⚠
- p.Val115Asp Single submitter ⚠
- p.Val262Ile Single submitter ⚠
- p.Val379Ile Single submitter ⚠
- p.Val99Met Single submitter ⚠