ATG4A — 34 ClinVar variants
All ClinVar germline ATG4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
6 Benign · 3 Likely benign · 25 Uncertain significance
Full ATG4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATG4A p.Ala264Val Uncertain significance Single submitter
- ATG4A p.Ala73Thr Uncertain significance Single submitter
- ATG4A p.Ala87Val Uncertain significance Single submitter
- ATG4A p.Arg113His Uncertain significance Single submitter
- ATG4A p.Arg187His Uncertain significance Single submitter
- ATG4A p.Asn310Thr Uncertain significance Single submitter
- ATG4A p.Asp388Glu Uncertain significance Single submitter
- ATG4A p.Glu369Gln Uncertain significance Single submitter
- ATG4A p.Glu385Asp Uncertain significance Single submitter
- ATG4A p.Gly139Arg Uncertain significance Single submitter
- ATG4A p.Gly74Arg Uncertain significance Single submitter
- ATG4A p.Ile142Val Uncertain significance Single submitter
- ATG4A p.Lys105Glu Uncertain significance Single submitter
- ATG4A p.Lys184Gln Uncertain significance Single submitter
- ATG4A p.Phe146Leu Uncertain significance Single submitter
- ATG4A p.Phe286Tyr Uncertain significance Single submitter
- ATG4A p.Pro261Leu Uncertain significance Single submitter
- ATG4A p.Thr176Ile Uncertain significance Single submitter
- ATG4A p.Val171Ile Uncertain significance Single submitter
- ATG4A p.Val241Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All ATG4A variants
Benign 6
- p.Glu180Asp Multiple submitters
- p.Thr294= Multiple submitters
- p.Thr67= Multiple submitters
- c.1126+48G>A Single submitter
- c.815-49dup Single submitter
- p.Asp162= Single submitter
Likely benign 3
- c.736-3C>T Single submitter
- p.Arg199Ser Single submitter
- p.Ser100Asn Single submitter
Uncertain significance 25
- p.Ala264Val Single submitter ⚠
- p.Ala73Thr Single submitter ⚠
- p.Ala87Val Single submitter ⚠
- p.Arg113His Single submitter ⚠
- p.Arg187His Single submitter ⚠
- p.Asn310Thr Single submitter ⚠
- p.Asp388Glu Single submitter ⚠
- p.Glu110Lys Single submitter ⚠
- p.Glu369Gln Single submitter ⚠
- p.Glu385Asp Single submitter ⚠
- p.Gly139Arg Single submitter ⚠
- p.Gly74Arg Single submitter ⚠
- p.Ile142Val Single submitter ⚠
- p.Ile341Thr Single submitter ⚠
- p.Ile64Val Single submitter
- p.Ile91_Cys92insTer Single submitter
- p.Lys105Glu Single submitter ⚠
- p.Lys184Gln Single submitter ⚠
- p.Phe146Leu Single submitter ⚠
- p.Phe286Tyr Single submitter ⚠
- p.Pro261Leu Single submitter ⚠
- p.Thr176Ile Single submitter ⚠
- p.Thr67Met Single submitter
- p.Val171Ile Single submitter ⚠
- p.Val241Ala Single submitter ⚠