ATG5 — 19 ClinVar variants
All ClinVar germline ATG5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
5 Benign · 1 Likely benign · 13 Uncertain significance
Full ATG5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATG5 p.Ala207Thr Uncertain significance Single submitter
- ATG5 p.Asn99Ser Uncertain significance Single submitter
- ATG5 p.Asp228Val Uncertain significance Single submitter
- ATG5 p.Glu109Gly Uncertain significance Single submitter
- ATG5 p.Glu144Gly Uncertain significance Single submitter
- ATG5 p.Ile121Val Uncertain significance Single submitter
- ATG5 p.Phe198Tyr Uncertain significance Single submitter
- ATG5 p.Thr21Arg Uncertain significance Single submitter
- ATG5 p.Tyr36Cys Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All ATG5 variants
Benign 5
- c.237-8A>G Single submitter
- p.Ile65Val Single submitter
- p.Leu22= Single submitter
- p.Met129Val Single submitter
- p.Lys148= No assertion criteria ATG5-related disorder
Likely benign 1
- p.Ile227Val Single submitter
Uncertain significance 13
- c.573+1G>T Single submitter
- p.Ala207Thr Single submitter ⚠
- p.Asn99Ser Single submitter ⚠
- p.Asp228Val Single submitter ⚠
- p.Asp4Glu Single submitter ⚠
- p.Gln140His Single submitter ⚠
- p.Glu109Gly Single submitter ⚠
- p.Glu144Gly Single submitter ⚠
- p.Ile121Val Single submitter ⚠
- p.Phe187Ile Single submitter ⚠
- p.Phe198Tyr Single submitter ⚠
- p.Thr21Arg Single submitter ⚠
- p.Tyr36Cys Single submitter ⚠