ACY3 — 70 ClinVar variants
All ClinVar germline ACY3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
5 Likely benign · 65 Uncertain significance
Full ACY3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACY3 p.Ala128Thr Uncertain significance Single submitter
- ACY3 p.Ala222Asp Uncertain significance Single submitter
- ACY3 p.Ala294Asp Uncertain significance Single submitter
- ACY3 p.Ala310Ser Uncertain significance Single submitter
- ACY3 p.Ala39Thr Uncertain significance Single submitter
- ACY3 p.Arg13His Uncertain significance Single submitter
- ACY3 p.Arg159Gln Uncertain significance Single submitter
- ACY3 p.Arg92Gly Uncertain significance Single submitter
- ACY3 p.Asn117Thr Uncertain significance Single submitter
- ACY3 p.Asn54Lys Uncertain significance Single submitter
- ACY3 p.Asp251Val Uncertain significance Single submitter
- ACY3 p.Asp269Asn Uncertain significance Single submitter
- ACY3 p.Asp85Gly Uncertain significance Single submitter
- ACY3 p.Asp86Glu Uncertain significance Single submitter
- ACY3 p.Cys140Ser Uncertain significance Single submitter
- ACY3 p.Cys152Ser Uncertain significance Single submitter
- ACY3 p.Gln146His Uncertain significance Single submitter
- ACY3 p.Glu178Gly Uncertain significance Single submitter
- ACY3 p.Glu285Lys Uncertain significance Single submitter
- ACY3 p.Gly101Arg Uncertain significance Single submitter
- ACY3 p.Gly101Glu Uncertain significance Single submitter
- ACY3 p.Gly101Val Uncertain significance Single submitter
- ACY3 p.Gly123Val Uncertain significance Single submitter
- ACY3 p.Gly22Asp Uncertain significance Single submitter
- ACY3 p.Ile261Thr Uncertain significance Single submitter
- ACY3 p.Ile283Thr Uncertain significance Single submitter
- ACY3 p.Phe282Ile Uncertain significance Single submitter
- ACY3 p.Phe282Leu Uncertain significance Single submitter
- ACY3 p.Tyr157His Uncertain significance Single submitter
- ACY3 p.Val14Met Uncertain significance Single submitter
- ACY3 p.Val16Ala Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- ACY3 p.Ala120Gly Uncertain significance Single submitter
- ACY3 p.Ala15Ser Uncertain significance Single submitter
- ACY3 p.Ala53Thr Uncertain significance Single submitter
- ACY3 p.Arg12Cys Uncertain significance Single submitter
- ACY3 p.Arg141Cys Uncertain significance Single submitter
- ACY3 p.Arg188Gln Uncertain significance Single submitter
- ACY3 p.Arg32Gln Uncertain significance Single submitter
- ACY3 p.Arg32Gly Uncertain significance Single submitter
- ACY3 p.Arg32Trp Uncertain significance Single submitter
- ACY3 p.Arg62Cys Uncertain significance Single submitter
- ACY3 p.Arg71Cys Uncertain significance Single submitter
- ACY3 p.Arg8Trp Uncertain significance Single submitter
- ACY3 p.Arg94Gln Uncertain significance Single submitter
- ACY3 p.Asn210Ser Uncertain significance Single submitter
- ACY3 p.Glu133Lys Uncertain significance Single submitter
- ACY3 p.Glu207Lys Uncertain significance Single submitter
- ACY3 p.Glu273Lys Uncertain significance Single submitter
- ACY3 p.Gly237Ala Uncertain significance Single submitter
- ACY3 p.Ile206Thr Uncertain significance Single submitter
- ACY3 p.Lys103Arg Uncertain significance Single submitter
- ACY3 p.Met195Ile Uncertain significance Single submitter
- ACY3 p.Met25Thr Uncertain significance Single submitter
- ACY3 p.Phe301Leu Likely benign Single submitter
- ACY3 p.Pro10Ser Uncertain significance Single submitter
- ACY3 p.Pro306Arg Uncertain significance Single submitter
- ACY3 p.Pro55Leu Uncertain significance Single submitter
- ACY3 p.Pro84Arg Uncertain significance Single submitter
- ACY3 p.Ser105Leu Uncertain significance Single submitter
- ACY3 p.Thr277Arg Uncertain significance Single submitter
- ACY3 p.Thr91Lys Uncertain significance Single submitter
- ACY3 p.Val228Ile Uncertain significance Single submitter
- ACY3 p.Val229Met Uncertain significance Single submitter
- ACY3 p.Val305Met Uncertain significance Single submitter
- ACY3 p.Val65Met Uncertain significance Single submitter
- ACY3 p.Val90Met Uncertain significance Single submitter
All ACY3 variants
Likely benign 5
- p.Ala310Val Single submitter
- p.Arg250Gln Single submitter
- p.Phe301Leu Single submitter ⚠
- p.Ser316Thr Single submitter
- p.Val293Ile Single submitter
Uncertain significance 65
- p.Ala120Gly Single submitter ⚠
- p.Ala128Thr Single submitter ⚠
- p.Ala15Ser Single submitter ⚠
- p.Ala222Asp Single submitter ⚠
- p.Ala294Asp Single submitter ⚠
- p.Ala310Ser Single submitter ⚠
- p.Ala39Thr Single submitter ⚠
- p.Ala53Thr Single submitter ⚠
- p.Arg12Cys Single submitter ⚠
- p.Arg13His Single submitter ⚠
- p.Arg141Cys Single submitter ⚠
- p.Arg159Gln Single submitter ⚠
- p.Arg188Gln Single submitter ⚠
- p.Arg32Gln Single submitter ⚠
- p.Arg32Gly Single submitter ⚠
- p.Arg32Trp Single submitter ⚠
- p.Arg62Cys Single submitter ⚠
- p.Arg71Cys Single submitter ⚠
- p.Arg8Trp Single submitter ⚠
- p.Arg92Gly Single submitter ⚠
- p.Arg94Gln Single submitter ⚠
- p.Asn117Thr Single submitter ⚠
- p.Asn210Ser Single submitter ⚠
- p.Asn54Lys Single submitter ⚠
- p.Asp251Val Single submitter ⚠
- p.Asp269Asn Single submitter ⚠
- p.Asp85Gly Single submitter ⚠
- p.Asp86Glu Single submitter ⚠
- p.Cys140Ser Single submitter ⚠
- p.Cys152Ser Single submitter ⚠
- p.Gln146His Single submitter ⚠
- p.Glu133Lys Single submitter ⚠
- p.Glu178Gly Single submitter ⚠
- p.Glu207Lys Single submitter ⚠
- p.Glu273Lys Single submitter ⚠
- p.Glu285Lys Single submitter ⚠
- p.Gly101Arg Single submitter ⚠
- p.Gly101Glu Single submitter ⚠
- p.Gly101Val Single submitter ⚠
- p.Gly123Val Single submitter ⚠
- p.Gly22Asp Single submitter ⚠
- p.Gly237Ala Single submitter ⚠
- p.Ile206Thr Single submitter ⚠
- p.Ile261Thr Single submitter ⚠
- p.Ile283Thr Single submitter ⚠
- p.Lys103Arg Single submitter ⚠
- p.Met195Ile Single submitter ⚠
- p.Met25Thr Single submitter ⚠
- p.Phe282Ile Single submitter ⚠
- p.Phe282Leu Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro306Arg Single submitter ⚠
- p.Pro55Leu Single submitter ⚠
- p.Pro84Arg Single submitter ⚠
- p.Ser105Leu Single submitter ⚠
- p.Thr277Arg Single submitter ⚠
- p.Thr91Lys Single submitter ⚠
- p.Tyr157His Single submitter ⚠
- p.Val14Met Single submitter ⚠
- p.Val16Ala Single submitter ⚠
- p.Val228Ile Single submitter ⚠
- p.Val229Met Single submitter ⚠
- p.Val305Met Single submitter ⚠
- p.Val65Met Single submitter ⚠
- p.Val90Met Single submitter ⚠