PIK3C2G — 189 ClinVar variants

All ClinVar germline PIK3C2G variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →

2 Likely pathogenic · 2 Benign · 13 Likely benign · 172 Uncertain significance

Full PIK3C2G gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 141

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 128

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 PIK3C2G variants

Likely pathogenic 2

c.761+2T>C No assertion criteria esophageal atresia/tracheoesophageal fistula
p.Pro300fs No assertion criteria familial hypercholesterolemia

Benign 2

p.Pro146Leu Multiple submitters
p.Pro129del Single submitter

Likely benign 13

c.3780+1G>A Multiple submitters
c.4309-8G>A Single submitter
p.Arg1467Gln Single submitter
p.Asn810Lys Single submitter
p.Asp358Asn Single submitter
p.Gly215Arg Single submitter
p.His930= Single submitter
p.Lys353Arg Single submitter
p.Pro1303Ser Single submitter
p.Pro1402= Single submitter
p.Thr120Met Single submitter
p.Thr243Met Single submitter
p.Val198Met Single submitter

Uncertain significance 172

p.Ala1349Thr Multiple submitters ⚠
p.Leu905Arg Multiple submitters ⚠
c.3480+1G>T Single submitter Premature coronary artery atherosclerosis
p.Ala1143Pro Single submitter ⚠
p.Ala1222Pro Single submitter ⚠
p.Ala699Ser Single submitter ⚠
p.Ala765Thr Single submitter ⚠
p.Ala830Val Single submitter ⚠
p.Arg1022Leu Single submitter ⚠
p.Arg1075Cys Single submitter ⚠
p.Arg1316Gly Single submitter ⚠
p.Arg1467Gly Single submitter ⚠
p.Arg722His Single submitter ⚠
p.Arg755Lys Single submitter ⚠
p.Arg779Ser Single submitter ⚠
p.Arg822Cys Single submitter ⚠
p.Arg94Cys Single submitter ⚠
p.Arg94His Single submitter ⚠
p.Arg968Cys Single submitter ⚠
p.Arg968His Single submitter ⚠
p.Arg997Ser Single submitter
p.Asn1079Asp Single submitter ⚠
p.Asn1211Ser Single submitter
p.Asn1483Ser Single submitter ⚠
p.Asn162His Single submitter ⚠
p.Asn250His Single submitter ⚠
p.Asn466Asp Single submitter ⚠
p.Asn495Ile Single submitter ⚠
p.Asn839Ile Single submitter
p.Asn920Lys Single submitter
p.Asn956His Single submitter
p.Asn982His Single submitter
p.Asp1092Glu Single submitter ⚠
p.Asp152Gly Single submitter ⚠
p.Asp41Asn Single submitter ⚠
p.Asp667Gly Single submitter ⚠
p.Asp72Val Single submitter ⚠
p.Asp8Tyr Single submitter ⚠
p.Asp931Asn Single submitter ⚠
p.Asp966Val Single submitter ⚠
p.Asp970Asn Single submitter ⚠
p.Asp990Gly Single submitter ⚠
p.Asp990Tyr Single submitter
p.Cys1060Phe Single submitter ⚠
p.Cys1205Ser Single submitter
p.Cys124Tyr Single submitter ⚠
p.Cys1340Ser Single submitter ⚠
p.Cys513Phe Single submitter ⚠
p.Cys608Tyr Single submitter ⚠
p.Cys924Arg Single submitter ⚠
p.Cys933Arg Single submitter ⚠
p.Gln1152His Single submitter ⚠
p.Gln1219Lys Single submitter
p.Gln1235Glu Single submitter ⚠
p.Gln1282Glu Single submitter ⚠
p.Gln1289Lys Single submitter ⚠
p.Gln299Lys Single submitter ⚠
p.Gln344Arg Single submitter ⚠
p.Glu1236Ala Single submitter ⚠
p.Glu1355Lys Single submitter ⚠
p.Glu159Lys Single submitter ⚠
p.Glu190Lys Single submitter ⚠
p.Glu23Gly Single submitter ⚠
p.Glu485Gln Single submitter ⚠
p.Glu744Gly Single submitter ⚠
p.Glu764Asp Single submitter ⚠
p.Glu88Gly Single submitter ⚠
p.Gly135Ser Single submitter ⚠
p.Gly196Val Single submitter ⚠
p.Gly374Arg Single submitter ⚠
p.Gly632Arg Single submitter
p.His1304Arg Single submitter ⚠
p.His1390Asn Single submitter ⚠
p.His1395Asp Single submitter ⚠
p.His291Tyr Single submitter ⚠
p.His332Leu Single submitter ⚠
p.His751Pro Single submitter
p.His892Tyr Single submitter ⚠
p.Ile1020Thr Single submitter ⚠
p.Ile1069Asn Single submitter ⚠
p.Ile1264Met Single submitter ⚠
p.Ile1377Met Single submitter ⚠
p.Ile290Thr Single submitter
p.Ile290Val Single submitter ⚠
p.Ile590Thr Single submitter
p.Ile902Thr Single submitter ⚠
p.Leu1240Pro Single submitter ⚠
p.Leu1321Arg Single submitter ⚠
p.Leu328Pro Single submitter ⚠
p.Leu349Ser Single submitter ⚠
p.Leu392Arg Single submitter ⚠
p.Leu393Ile Single submitter ⚠
p.Leu417Pro Single submitter ⚠
p.Leu456Ile Single submitter ⚠
p.Leu493Ile Single submitter ⚠
p.Leu701Phe Single submitter ⚠
p.Leu732Phe Single submitter
p.Leu736Pro Single submitter ⚠
p.Leu78Ser Single submitter ⚠
p.Leu820Phe Single submitter
p.Lys1128Arg Single submitter
p.Lys1370Arg Single submitter ⚠
p.Lys1423Gln Single submitter
p.Lys153Glu Single submitter ⚠
p.Lys270Thr Single submitter ⚠
p.Lys357Asn Single submitter ⚠
p.Lys359Asn Single submitter ⚠
p.Lys677Glu Single submitter ⚠
p.Lys877Gln Single submitter ⚠
p.Met1119Thr Single submitter ⚠
p.Met216Lys Single submitter ⚠
p.Met634Leu Single submitter ⚠
p.Met648Ile Single submitter ⚠
p.Met971Val Single submitter ⚠
p.Phe1056Ile Single submitter ⚠
p.Phe1089Cys Single submitter ⚠
p.Phe1318Leu Single submitter
p.Phe1344Tyr Single submitter ⚠
p.Phe186Leu Single submitter ⚠
p.Phe278Leu Single submitter ⚠
p.Phe342Leu Single submitter ⚠
p.Phe807Val Single submitter ⚠
p.Pro105Thr Single submitter ⚠
p.Pro1112Ser Single submitter ⚠
p.Pro1397Arg Single submitter ⚠
p.Pro203Ser Single submitter ⚠
p.Pro214Ser Single submitter ⚠
p.Pro30Leu Single submitter ⚠
p.Pro644Thr Single submitter
p.Pro69Ser Single submitter ⚠
p.Pro707Thr Single submitter ⚠
p.Ser110Gly Single submitter ⚠
p.Ser1151Arg Single submitter
p.Ser125Phe Single submitter ⚠
p.Ser147Pro Single submitter ⚠
p.Ser150Asn Single submitter ⚠
p.Ser183Leu Single submitter ⚠
p.Ser183Thr Single submitter ⚠
p.Ser195Gly Single submitter ⚠
p.Ser227Thr Single submitter ⚠
p.Ser335Arg Single submitter ⚠
p.Ser4Pro Single submitter ⚠
p.Ser680Cys Single submitter ⚠
p.Ser958Asn Single submitter
p.Thr1067Lys Single submitter ⚠
p.Thr120Lys Single submitter ⚠
p.Thr1232Ala Single submitter ⚠
p.Thr1422Ile Single submitter ⚠
p.Thr483Ile Single submitter ⚠
p.Thr583= Single submitter
p.Thr74Ile Single submitter ⚠
p.Thr770Ile Single submitter
p.Thr770Ser Single submitter ⚠
p.Trp1038Arg Single submitter ⚠
p.Trp221Arg Single submitter ⚠
p.Trp673Leu Single submitter ⚠
p.Tyr1058His Single submitter ⚠
p.Tyr1058Phe Single submitter
p.Tyr502Cys Single submitter ⚠
p.Tyr717His Single submitter
p.Tyr845Cys Single submitter ⚠
p.Val1417Phe Single submitter ⚠
p.Val1438Ile Single submitter ⚠
p.Val1459Gly Single submitter ⚠
p.Val1461Met Single submitter
p.Val427Met Single submitter ⚠
p.Val529Ala Single submitter
p.Glu1272= No assertion criteria
p.Leu1153= No assertion criteria
p.Ser1274Arg No assertion criteria ⚠
p.Thr937Ser No assertion criteria ⚠
p.Val973Ala No assertion criteria