Sugi Variant

Sugi Variant/BCAS3

BCAS3 — 146 ClinVar variants

All ClinVar germline BCAS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →

1 Pathogenic · 5 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 2 Benign · 9 Likely benign · 118 Uncertain significance

Full BCAS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 122

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 1

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

Predictors lean, ClinVar uncertain 75

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

Predictors split 46

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

All BCAS3 variants

Pathogenic 1

  • p.Arg636Ter Single submitter Hengel-Maroofian-Schols syndrome

Pathogenic/Likely pathogenic 5

  • p.Gln25Ter No assertion criteria Global developmental delay
  • p.Gly562Arg No assertion criteria Global developmental delay ⚠
  • p.Pro552Leu No assertion criteria Global developmental delay ⚠
  • p.Ser486Ter No assertion criteria Global developmental delay
  • p.Tyr242Ter No assertion criteria Global developmental delay

Likely pathogenic 11

  • p.Arg544Ter Single submitter Hengel-Maroofian-Schols syndrome
  • p.Gly809Cys Single submitter ⚠
  • p.Leu129Ter Single submitter Hengel-Maroofian-Schols syndrome
  • p.Ser575fs Single submitter Hengel-Maroofian-Schols syndrome
  • c.2029+4_2029+7del No assertion criteria Global developmental delay
  • p.Cys192Ter No assertion criteria Global developmental delay
  • p.Gln113Ter No assertion criteria Global developmental delay
  • p.Gln728Ter No assertion criteria Global developmental delay
  • p.Gly809Arg No assertion criteria Global developmental delay ⚠
  • p.Met177fs No assertion criteria Global developmental delay
  • p.Val378fs No assertion criteria Global developmental delay

Benign 2

Likely benign 9

Uncertain significance 118