ACBD7 — 16 ClinVar variants
All ClinVar germline ACBD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
2 Likely benign · 14 Uncertain significance
Full ACBD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACBD7 p.Ala74Pro Uncertain significance Single submitter
- ACBD7 p.Arg9Ser Uncertain significance Single submitter
- ACBD7 p.Gly39Val Uncertain significance Single submitter
- ACBD7 p.Ile88Thr Uncertain significance Single submitter
- ACBD7 p.Thr68Arg Uncertain significance Single submitter
- ACBD7 p.Thr68Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- ACBD7 p.Ala2Asp Uncertain significance Single submitter
- ACBD7 p.Ala71Val Uncertain significance Single submitter
- ACBD7 p.Glu28Gly Uncertain significance Single submitter
- ACBD7 p.Gly65Glu Uncertain significance Single submitter
- ACBD7 p.Gly87Arg Uncertain significance Single submitter
- ACBD7 p.Leu66Ser Uncertain significance Single submitter
- ACBD7 p.Lys63Arg Uncertain significance Single submitter
- ACBD7 p.Tyr75Cys Uncertain significance Single submitter
All ACBD7 variants
Likely benign 2
- p.Ala19Thr Single submitter
- p.Thr72Met Single submitter
Uncertain significance 14
- p.Ala2Asp Single submitter ⚠
- p.Ala71Val Single submitter ⚠
- p.Ala74Pro Single submitter ⚠
- p.Arg9Ser Single submitter ⚠
- p.Glu28Gly Single submitter ⚠
- p.Gly39Val Single submitter ⚠
- p.Gly65Glu Single submitter ⚠
- p.Gly87Arg Single submitter ⚠
- p.Ile88Thr Single submitter ⚠
- p.Leu66Ser Single submitter ⚠
- p.Lys63Arg Single submitter ⚠
- p.Thr68Arg Single submitter ⚠
- p.Thr68Met Single submitter ⚠
- p.Tyr75Cys Single submitter ⚠