CDC20 — 71 ClinVar variants

All ClinVar germline CDC20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

10 Pathogenic · 2 Likely pathogenic · 1 Benign · 1 Benign/Likely benign · 1 Likely benign · 56 Uncertain significance

Full CDC20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 58

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 29

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 27

The independent predictors disagree with each other — read with care.

All CDC20 variants

Pathogenic 10

  • c.330+1G>A No assertion criteria oocyte maturation defect 14
  • p.Ala211Thr No assertion criteria oocyte maturation defect 14 ⚠
  • p.Ala391_Cys392insTer No assertion criteria oocyte maturation defect 14
  • p.Arg182Ter No assertion criteria oocyte maturation defect 14
  • p.Arg262Ter No assertion criteria oocyte maturation defect 14
  • p.Arg322Gln No assertion criteria oocyte maturation defect 14 ⚠
  • p.Arg322Ter No assertion criteria oocyte maturation defect 14
  • p.Gly272fs No assertion criteria oocyte maturation defect 14
  • p.Trp385Cys No assertion criteria oocyte maturation defect 14
  • p.Tyr228Cys No assertion criteria oocyte maturation defect 14

Likely pathogenic 2

  • c.556+1G>T Single submitter oocyte maturation defect 14
  • p.Cys364Ter Single submitter oocyte maturation defect 14

Benign 1

Benign/Likely benign 1

Likely benign 1

Uncertain significance 56