Sugi Variant

Sugi Variant/PIK3CG

PIK3CG — 150 ClinVar variants

All ClinVar germline PIK3CG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 10 Benign · 6 Benign/Likely benign · 26 Likely benign · 103 Uncertain significance

Full PIK3CG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 95

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 69

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

Predictors split 25

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

All PIK3CG variants

Pathogenic 3

  • p.Arg1021Pro No assertion criteria immunodeficiency 97 with autoinflammation
  • p.Arg49Ser No assertion criteria immunodeficiency 97 with autoinflammation ⚠
  • p.Asn1085Ser No assertion criteria immunodeficiency 97 with autoinflammation ⚠

Likely pathogenic 1

Conflicting classifications of pathogenicity 1

  • p.Arg849Ter Single submitter immunodeficiency 97 with autoinflammation

Benign 10

Benign/Likely benign 6

Likely benign 26

Uncertain significance 103