Sugi Variant

Sugi Variant/PIK3CD

PIK3CD — 931 ClinVar variants

All ClinVar germline PIK3CD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 323 flagged for review →

19 Pathogenic · 14 Likely pathogenic · 15 Conflicting · 40 Benign · 29 Benign/Likely benign · 447 Likely benign · 367 Uncertain significance

Full PIK3CD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 323

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 3

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

Predictors agree, ClinVar conflicts 8

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 245

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 245

Predictors split 66

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

All PIK3CD variants

Pathogenic 19

  • p.Glu1021Lys Expert panel immunodeficiency 14 ⚠
  • p.Glu1025Gly Expert panel immunodeficiency 14 ⚠
  • p.Glu525Lys Expert panel immunodeficiency 14 ⚠
  • p.Ala53fs Single submitter immunodeficiency 14
  • p.Arg902Ter Single submitter immunodeficiency 14
  • p.Cys257fs Single submitter immunodeficiency 14
  • p.Gln563Ter Single submitter immunodeficiency 14
  • p.Gln75Ter Single submitter immunodeficiency 14
  • p.Gln79fs Single submitter immunodeficiency 14
  • p.Gln80fs Single submitter immunodeficiency 14
  • p.Glu722Ter Single submitter immunodeficiency 14
  • p.Leu439fs Single submitter immunodeficiency 14
  • p.Leu58fs Single submitter immunodeficiency 14
  • p.Pro35fs Single submitter immunodeficiency 14
  • p.Ser570fs Single submitter immunodeficiency 14
  • p.Tyr165fs Single submitter immunodeficiency 14
  • p.Asp853fs No assertion criteria immunodeficiency 14b, autosomal recessive
  • p.Gln721Ter No assertion criteria combined immunodeficiency with faciooculoskeletal anomalies
  • p.Val552fs No assertion criteria immunodeficiency 14b, autosomal recessive

Likely pathogenic 14

Conflicting classifications of pathogenicity 15

Benign 40

Benign/Likely benign 29

Likely benign 447

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 367

Showing the top 300 by review status; the full set is in the sitemap.