ATP5F1E — 32 ClinVar variants
All ClinVar germline ATP5F1E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Pathogenic · 4 Benign · 13 Likely benign · 14 Uncertain significance
Full ATP5F1E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP5F1E p.Ala20Glu Uncertain significance Single submitter
- ATP5F1E p.Ala8Val Uncertain significance Single submitter
- ATP5F1E p.Arg14Pro Uncertain significance Single submitter
- ATP5F1E p.Cys19Trp Uncertain significance Single submitter
- ATP5F1E p.Ile18Met Uncertain significance Single submitter
- ATP5F1E p.Leu10Phe Uncertain significance Single submitter
- ATP5F1E p.Ser39Cys Uncertain significance Single submitter
- ATP5F1E p.Thr29Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All ATP5F1E variants
Pathogenic 1
- p.Tyr12Cys No assertion criteria mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
Benign 4
- c.32+304T>C Multiple submitters
- c.-46C>T Multiple submitters
- c.-57G>A Multiple submitters
- c.-25C>T Single submitter
Likely benign 13
- c.33-65A>T Multiple submitters
- p.Ala3= Multiple submitters
- p.Thr29Lys Multiple submitters ⚠
- c.32+7C>T Single submitter
- c.33-163G>A Single submitter
- c.-45G>A Single submitter
- c.-47C>T Single submitter
- p.Asn42= Single submitter
- p.Lys49= Single submitter
- p.Ser39= Single submitter
- p.Thr38= Single submitter
- p.Tyr4= Single submitter
- p.Arg14= No assertion criteria ATP5F1E-related disorder
Uncertain significance 14
- c.32+5G>T Single submitter
- c.32+6C>T Single submitter
- p.Ala20Glu Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Arg14Pro Single submitter ⚠
- p.Arg14Ter Single submitter
- p.Cys19Trp Single submitter ⚠
- p.Glu51Lys Single submitter ⚠
- p.Glu51Ter Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
- p.Ile18Met Single submitter ⚠
- p.Leu10Phe Single submitter ⚠
- p.Lys50del Single submitter
- p.Ser39Cys Single submitter ⚠
- p.Thr29Ala Single submitter ⚠