Sugi Variant

Sugi Variant/CTNNA2

CTNNA2 — 162 ClinVar variants

All ClinVar germline CTNNA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

5 Pathogenic · 4 Likely pathogenic · 40 Benign · 2 Benign/Likely benign · 30 Likely benign · 81 Uncertain significance

Full CTNNA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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 51

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

Predictors split 20

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

All CTNNA2 variants

Pathogenic 5

  • c.103-1G>A Single submitter hereditary breast ovarian cancer syndrome
  • p.Asp646fs Single submitter cortical dysplasia, complex, with other brain malformations 9
  • p.Arg494Ter No assertion criteria cortical dysplasia, complex, with other brain malformations 9
  • p.Arg781Ter No assertion criteria cortical dysplasia, complex, with other brain malformations 9
  • p.Arg930Ter No assertion criteria cortical dysplasia, complex, with other brain malformations 9

Likely pathogenic 4

  • p.Arg240fs Single submitter cortical dysplasia, complex, with other brain malformations 9
  • p.Asp390fs Single submitter cortical dysplasia, complex, with other brain malformations 9
  • p.Glu182Ter Single submitter cortical dysplasia, complex, with other brain malformations 9
  • p.Leu458fs No assertion criteria CTNNA2-related disorder

Benign 40

Benign/Likely benign 2

Likely benign 30

Uncertain significance 81