COMMD3-BMI1 — 7 ClinVar variants
All ClinVar germline COMMD3-BMI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
7 Uncertain significance
Full COMMD3-BMI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 3
The independent predictors disagree with each other — read with care.
All COMMD3-BMI1 variants
Uncertain significance 7
- p.Arg188Cys Single submitter ⚠
- p.Glu2Asp Single submitter ⚠
- p.Leu119Pro Single submitter
- p.Phe181Val Single submitter ⚠
- p.Thr184Arg Single submitter ⚠
- p.Thr331Ile Single submitter ⚠
- p.Tyr140His Single submitter