PIK3CB — 111 ClinVar variants

All ClinVar germline PIK3CB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

1 Likely pathogenic · 7 Benign · 15 Likely benign · 88 Uncertain significance

Full PIK3CB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 80

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 67

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

Predictors split 13

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

All PIK3CB variants

Likely pathogenic 1

p.Glu987Asp No assertion criteria NK-cell enteropathy

Benign 7

c.1302+10T>C Multiple submitters
p.Arg1069= Multiple submitters
p.Arg811= Multiple submitters
p.Gln644= Multiple submitters
p.Tyr618= Multiple submitters
c.1302+9A>G Single submitter
p.Gly477= Single submitter

Likely benign 15

p.Asn717Ser Multiple submitters
p.Phe508= Multiple submitters
c.2425+9T>G Single submitter
c.2672+10T>C Single submitter
c.2796+8G>T Single submitter
c.2943-9C>T Single submitter
c.622-10C>T Single submitter
p.Ala1005= Single submitter
p.Arg896Leu Single submitter
p.Gln818= Single submitter
p.Ile198= Single submitter
p.Leu660= Single submitter
p.Lys290= Single submitter
p.Pro483= Single submitter
p.Val223Ile Single submitter

Uncertain significance 88

p.Ala490Val Single submitter ⚠
p.Ala519Thr Single submitter ⚠
p.Ala593Val Single submitter ⚠
p.Ala830Val Single submitter ⚠
p.Arg1065Gly Single submitter ⚠
p.Arg153Cys Single submitter ⚠
p.Arg153Leu Single submitter ⚠
p.Arg231His Single submitter ⚠
p.Arg399Gln Single submitter ⚠
p.Arg429Met Single submitter ⚠
p.Arg628Gln Single submitter ⚠
p.Arg700Gln Single submitter ⚠
p.Arg752Trp Single submitter ⚠
p.Arg821Gly Single submitter ⚠
p.Arg847His Single submitter ⚠
p.Arg955Ter Single submitter
p.Arg994Ter Single submitter
p.Asn217Asp Single submitter ⚠
p.Asn310Asp Single submitter ⚠
p.Asn70Ser Single submitter ⚠
p.Asn734His Single submitter ⚠
p.Asn998Tyr Single submitter ⚠
p.Asp138His Single submitter
p.Asp13Gly Single submitter
p.Asp545Asn Single submitter ⚠
p.Cys765Arg Single submitter ⚠
p.Cys985Arg Single submitter
p.Gln207Arg Single submitter ⚠
p.Gln229Arg Single submitter ⚠
p.Gln571His Single submitter ⚠
p.Gln672His Single submitter ⚠
p.Glu157Lys Single submitter ⚠
p.Glu238Lys Single submitter ⚠
p.Glu362Asp Single submitter ⚠
p.Gly360Ser Single submitter ⚠
p.His359Tyr Single submitter ⚠
p.His492Leu Single submitter ⚠
p.His996Arg Single submitter
p.Ile221Met Single submitter ⚠
p.Ile323Val Single submitter ⚠
p.Ile380Met Single submitter ⚠
p.Ile420Val Single submitter ⚠
p.Ile767Phe Single submitter ⚠
p.Leu1003Val Single submitter ⚠
p.Leu1006Arg Single submitter ⚠
p.Leu232Phe Single submitter ⚠
p.Leu232Val Single submitter ⚠
p.Leu363Ile Single submitter ⚠
p.Leu408Phe Single submitter ⚠
p.Leu725Phe Single submitter ⚠
p.Leu881Val Single submitter ⚠
p.Leu999Val Single submitter
p.Lys350Ile Single submitter ⚠
p.Lys414Arg Single submitter ⚠
p.Lys581Arg Single submitter ⚠
p.Lys707Gln Single submitter ⚠
p.Lys886Glu Single submitter ⚠
p.Met1060Leu Single submitter ⚠
p.Met169Lys Single submitter ⚠
p.Met297Ile Single submitter ⚠
p.Met73Val Single submitter ⚠
p.Met742Val Single submitter ⚠
p.Pro1013Arg Single submitter ⚠
p.Pro31Leu Single submitter ⚠
p.Pro422Ser Single submitter ⚠
p.Pro466Ser Single submitter ⚠
p.Pro47Ala Single submitter ⚠
p.Pro602Ser Single submitter ⚠
p.Ser1027Ala Single submitter ⚠
p.Ser26Tyr Single submitter ⚠
p.Ser309Cys Single submitter ⚠
p.Ser521Asn Single submitter ⚠
p.Ser523Asn Single submitter ⚠
p.Thr1063Ile Single submitter ⚠
p.Thr485Ser Single submitter ⚠
p.Trp327Leu Single submitter ⚠
p.Tyr244Cys Single submitter ⚠
p.Tyr505Asp Single submitter ⚠
p.Tyr78Cys Single submitter ⚠
p.Val199Ile Single submitter ⚠
p.Val214Ala Single submitter ⚠
p.Val257Ile Single submitter ⚠
p.Val336Asp Single submitter ⚠
p.Val338Ile Single submitter ⚠
p.Val349Ile Single submitter ⚠
p.Val434Met Single submitter ⚠
p.Val914fs Single submitter
p.Val967Ala Single submitter ⚠