PIK3C3 — 70 ClinVar variants
All ClinVar germline PIK3C3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
3 Benign · 2 Likely benign · 65 Uncertain significance
Full PIK3C3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PIK3C3 p.Ala708Ser Uncertain significance Single submitter
- PIK3C3 p.Arg102Gly Uncertain significance Single submitter
- PIK3C3 p.Arg137Cys Uncertain significance Single submitter
- PIK3C3 p.Arg137His Uncertain significance Single submitter
- PIK3C3 p.Arg210Pro Uncertain significance Single submitter
- PIK3C3 p.Arg566Cys Uncertain significance Single submitter
- PIK3C3 p.Arg642Pro Uncertain significance Single submitter
- PIK3C3 p.Arg768Trp Uncertain significance Single submitter
- PIK3C3 p.Arg799Pro Uncertain significance Single submitter
- PIK3C3 p.Asn18Ser Uncertain significance Single submitter
- PIK3C3 p.Asp388Glu Uncertain significance Single submitter
- PIK3C3 p.Asp56Asn Uncertain significance Single submitter
- PIK3C3 p.Cys61Phe Uncertain significance Single submitter
- PIK3C3 p.Gln326Pro Uncertain significance Single submitter
- PIK3C3 p.Glu312Lys Uncertain significance Single submitter
- PIK3C3 p.Glu500Lys Uncertain significance Single submitter
- PIK3C3 p.Gly117Arg Uncertain significance Single submitter
- PIK3C3 p.Gly134Arg Uncertain significance Single submitter
- PIK3C3 p.His554Tyr Uncertain significance Single submitter
- PIK3C3 p.Ile23Met Uncertain significance Single submitter
- PIK3C3 p.Ile604Val Uncertain significance Single submitter
- PIK3C3 p.Ile605Leu Uncertain significance Single submitter
- PIK3C3 p.Ile735Ser Uncertain significance Single submitter
- PIK3C3 p.Leu167Val Uncertain significance Single submitter
- PIK3C3 p.Leu26Phe Uncertain significance Single submitter
- PIK3C3 p.Leu277Val Uncertain significance Single submitter
- PIK3C3 p.Leu341Val Uncertain significance Single submitter
- PIK3C3 p.Leu384Phe Uncertain significance Single submitter
- PIK3C3 p.Leu848Ser Uncertain significance Single submitter
- PIK3C3 p.Met43Val Uncertain significance Single submitter
- PIK3C3 p.Phe64Ser Uncertain significance Single submitter
- PIK3C3 p.Pro458Ala Uncertain significance Single submitter
- PIK3C3 p.Pro772Thr Uncertain significance Single submitter
- PIK3C3 p.Pro829Ala Uncertain significance Single submitter
- PIK3C3 p.Ser128Leu Uncertain significance Single submitter
- PIK3C3 p.Ser301Asn Uncertain significance Single submitter
- PIK3C3 p.Ser448Asn Uncertain significance Single submitter
- PIK3C3 p.Ser710Asn Uncertain significance Single submitter
- PIK3C3 p.Thr126Met Uncertain significance Single submitter
- PIK3C3 p.Thr159Ile Uncertain significance Single submitter
- PIK3C3 p.Tyr114Cys Uncertain significance Single submitter
- PIK3C3 p.Tyr97Cys Uncertain significance Single submitter
- PIK3C3 p.Val588Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- PIK3C3 p.Ala615Thr Uncertain significance Single submitter
- PIK3C3 p.Arg174His Uncertain significance Single submitter
- PIK3C3 p.Arg561Gly Uncertain significance Single submitter
- PIK3C3 p.Ile201Val Uncertain significance Single submitter
- PIK3C3 p.Leu49Pro Uncertain significance Single submitter
- PIK3C3 p.Leu57Phe Uncertain significance Single submitter
- PIK3C3 p.Phe7Ser Uncertain significance Single submitter
- PIK3C3 p.Phe7Val Uncertain significance Single submitter
- PIK3C3 p.Phe846Leu Uncertain significance Single submitter
- PIK3C3 p.Pro156Ser Uncertain significance Single submitter
- PIK3C3 p.Pro73Ala Uncertain significance Single submitter
- PIK3C3 p.Ser279Arg Uncertain significance Single submitter
- PIK3C3 p.Val559Ile Uncertain significance Single submitter
All PIK3C3 variants
Benign 3
- p.Leu862= Multiple submitters
- c.1170+14_1170+17del Single submitter
- p.Leu384= Single submitter
Likely benign 2
- p.Cys733= Single submitter
- p.Val726Ile Single submitter
Uncertain significance 65
- c.1170+3G>A Single submitter
- c.1969-1G>A Single submitter
- p.Ala615Thr Single submitter ⚠
- p.Ala708Ser Single submitter ⚠
- p.Arg102Gly Single submitter ⚠
- p.Arg137Cys Single submitter ⚠
- p.Arg137His Single submitter ⚠
- p.Arg174His Single submitter ⚠
- p.Arg210Pro Single submitter ⚠
- p.Arg561Gly Single submitter ⚠
- p.Arg566Cys Single submitter ⚠
- p.Arg642Pro Single submitter ⚠
- p.Arg768Trp Single submitter ⚠
- p.Arg799Pro Single submitter ⚠
- p.Asn18Ser Single submitter ⚠
- p.Asp388Glu Single submitter ⚠
- p.Asp56Asn Single submitter ⚠
- p.Cys61Phe Single submitter ⚠
- p.Gln326Pro Single submitter ⚠
- p.Glu312Lys Single submitter ⚠
- p.Glu500Lys Single submitter ⚠
- p.Glu581Lys Single submitter
- p.Gly117Arg Single submitter ⚠
- p.Gly134Arg Single submitter ⚠
- p.His554Tyr Single submitter ⚠
- p.Ile201Val Single submitter ⚠
- p.Ile23Met Single submitter ⚠
- p.Ile411Met Single submitter
- p.Ile604Val Single submitter ⚠
- p.Ile605Leu Single submitter ⚠
- p.Ile735Ser Single submitter ⚠
- p.Leu167Val Single submitter ⚠
- p.Leu26Phe Single submitter ⚠
- p.Leu277Val Single submitter ⚠
- p.Leu341Val Single submitter ⚠
- p.Leu384Phe Single submitter ⚠
- p.Leu49Pro Single submitter ⚠
- p.Leu57Phe Single submitter ⚠
- p.Leu70Met Single submitter
- p.Leu848Ser Single submitter ⚠
- p.Met43Val Single submitter ⚠
- p.Phe64Ser Single submitter ⚠
- p.Phe7Ser Single submitter ⚠
- p.Phe7Val Single submitter ⚠
- p.Phe846Leu Single submitter ⚠
- p.Pro156Ser Single submitter ⚠
- p.Pro160Ser Single submitter
- p.Pro458Ala Single submitter ⚠
- p.Pro73Ala Single submitter ⚠
- p.Pro772Thr Single submitter ⚠
- p.Pro829Ala Single submitter ⚠
- p.Ser128Leu Single submitter ⚠
- p.Ser279Arg Single submitter ⚠
- p.Ser301Asn Single submitter ⚠
- p.Ser448Asn Single submitter ⚠
- p.Ser710Asn Single submitter ⚠
- p.Thr126Met Single submitter ⚠
- p.Thr159Ile Single submitter ⚠
- p.Thr179Ser Single submitter
- p.Tyr114Cys Single submitter ⚠
- p.Tyr97Cys Single submitter ⚠
- p.Val559Ile Single submitter ⚠
- p.Val588Met Single submitter ⚠
- p.Val74Leu Single submitter
- p.Val839fs Single submitter