Sugi Variant

Sugi Variant/PIK3C2A

PIK3C2A — 587 ClinVar variants

All ClinVar germline PIK3C2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 261 flagged for review →

21 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 5 Conflicting · 29 Benign · 5 Benign/Likely benign · 227 Likely benign · 290 Uncertain significance

Full PIK3C2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 261

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 agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 205

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 205

Predictors split 51

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

All PIK3C2A variants

Pathogenic 21

Pathogenic/Likely pathogenic 1

  • p.Thr1415fs Multiple submitters oculocerebrodental syndrome

Likely pathogenic 9

Conflicting classifications of pathogenicity 5

Benign 29

Benign/Likely benign 5

Likely benign 227

Uncertain significance 290