PIK3R4 — 164 ClinVar variants

All ClinVar germline PIK3R4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →

6 Benign · 5 Likely benign · 153 Uncertain significance

Full PIK3R4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 149

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 125

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

Predictors split 24

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

All PIK3R4 variants

Benign 6

p.Arg113= Multiple submitters
p.Ile1035Val Multiple submitters
p.Val448Ile Multiple submitters
c.1451-10T>C Single submitter
c.2128-3T>C Single submitter
p.Leu699Val Single submitter

Likely benign 5

p.Ala471= Single submitter
p.Arg347Trp Single submitter
p.Asn79His Single submitter
p.Asp1095= Single submitter
p.Met1025Leu Single submitter

Uncertain significance 153

p.Ala1009Thr Single submitter ⚠
p.Ala1185Thr Single submitter ⚠
p.Ala1229Val Single submitter ⚠
p.Ala1271Ser Single submitter ⚠
p.Ala1336Thr Single submitter ⚠
p.Ala315Pro Single submitter ⚠
p.Ala315Thr Single submitter ⚠
p.Ala435Ser Single submitter ⚠
p.Ala635Thr Single submitter ⚠
p.Ala661Asp Single submitter ⚠
p.Ala789Thr Single submitter ⚠
p.Ala874Ser Single submitter ⚠
p.Arg103Gly Single submitter ⚠
p.Arg1044Gln Single submitter ⚠
p.Arg107Ter Single submitter
p.Arg117Cys Single submitter ⚠
p.Arg126Cys Single submitter ⚠
p.Arg296His Single submitter ⚠
p.Arg417Gly Single submitter ⚠
p.Arg495Ser Single submitter ⚠
p.Arg563Gln Single submitter ⚠
p.Arg570Cys Single submitter ⚠
p.Arg672Cys Single submitter ⚠
p.Arg726His Single submitter ⚠
p.Arg752Gln Single submitter ⚠
p.Arg752Leu Single submitter ⚠
p.Arg77Gly Single submitter ⚠
p.Arg844Gly Single submitter ⚠
p.Arg844Trp Single submitter ⚠
p.Arg846Thr Single submitter ⚠
p.Arg891His Single submitter ⚠
p.Arg952Gln Single submitter ⚠
p.Arg980His Single submitter ⚠
p.Asn1118Ser Single submitter ⚠
p.Asn160Ser Single submitter ⚠
p.Asn373Ile Single submitter ⚠
p.Asn427Ser Single submitter ⚠
p.Asn512Ser Single submitter ⚠
p.Asn523Asp Single submitter ⚠
p.Asn574Ser Single submitter ⚠
p.Asp1003Ala Single submitter ⚠
p.Asp108Asn Single submitter ⚠
p.Asp1100Asn Single submitter ⚠
p.Asp1334Asn Single submitter ⚠
p.Asp217Tyr Single submitter ⚠
p.Asp510Glu Single submitter ⚠
p.Asp659Glu Single submitter ⚠
p.Asp730Val Single submitter ⚠
p.Asp737Gly Single submitter ⚠
p.Asp758Asn Single submitter ⚠
p.Cys759Phe Single submitter ⚠
p.Gln1197His Single submitter ⚠
p.Gln1205His Single submitter ⚠
p.Gln611Arg Single submitter ⚠
p.Gln611His Single submitter ⚠
p.Gln644His Single submitter ⚠
p.Gln69Arg Single submitter ⚠
p.Gln851His Single submitter ⚠
p.Gln934His Single submitter ⚠
p.Gln946His Single submitter ⚠
p.Glu1209Asp Single submitter ⚠
p.Glu369Gln Single submitter ⚠
p.Glu412Ala Single submitter
p.Glu558Asp Single submitter ⚠
p.Glu893Gly Single submitter ⚠
p.Glu893Lys Single submitter ⚠
p.Gly1043Val Single submitter ⚠
p.Gly1053Val Single submitter
p.Gly7Ala Single submitter ⚠
p.Gly817Cys Single submitter ⚠
p.Gly983Glu Single submitter ⚠
p.His1055Leu Single submitter ⚠
p.His1152Gln Single submitter ⚠
p.His1193Tyr Single submitter ⚠
p.His355Pro Single submitter ⚠
p.His424Arg Single submitter ⚠
p.His746Tyr Single submitter ⚠
p.His809Tyr Single submitter ⚠
p.His811Pro Single submitter ⚠
p.Ile1201Thr Single submitter ⚠
p.Ile123Thr Single submitter ⚠
p.Ile1255Phe Single submitter ⚠
p.Ile286Val Single submitter ⚠
p.Ile377Val Single submitter ⚠
p.Ile418Val Single submitter ⚠
p.Ile456Thr Single submitter ⚠
p.Ile467Val Single submitter ⚠
p.Ile551Thr Single submitter ⚠
p.Ile615Leu Single submitter ⚠
p.Ile615Val Single submitter ⚠
p.Ile710Ser Single submitter ⚠
p.Leu1007Phe Single submitter ⚠
p.Leu1135Ser Single submitter ⚠
p.Leu133Val Single submitter ⚠
p.Leu409Phe Single submitter ⚠
p.Lys1078Asn Single submitter ⚠
p.Lys1140Met Single submitter ⚠
p.Lys300Glu Single submitter ⚠
p.Lys309Thr Single submitter ⚠
p.Lys395Arg Single submitter ⚠
p.Lys503Thr Single submitter ⚠
p.Met1192Leu Single submitter ⚠
p.Met1192Val Single submitter ⚠
p.Met1215Leu Single submitter ⚠
p.Met642Lys Single submitter ⚠
p.Met747Val Single submitter ⚠
p.Met794Val Single submitter ⚠
p.Met871Val Single submitter ⚠
p.Met965Lys Single submitter ⚠
p.Phe1267Leu Single submitter ⚠
p.Phe656Ser Single submitter ⚠
p.Pro1273Arg Single submitter ⚠
p.Pro1325Leu Single submitter ⚠
p.Pro651Leu Single submitter ⚠
p.Pro697Ser Single submitter
p.Pro86Thr Single submitter ⚠
p.Pro876Leu Single submitter ⚠
p.Pro919Leu Single submitter ⚠
p.Pro922Leu Single submitter ⚠
p.Pro976Leu Single submitter ⚠
p.Pro977Thr Single submitter ⚠
p.Ser1034Cys Single submitter ⚠
p.Ser1141Leu Single submitter ⚠
p.Ser142Ala Single submitter ⚠
p.Ser410Gly Single submitter ⚠
p.Ser546Asn Single submitter ⚠
p.Ser66Arg Single submitter ⚠
p.Ser879Gly Single submitter ⚠
p.Ser894Phe Single submitter ⚠
p.Thr1217Ile Single submitter ⚠
p.Thr1347Ala Single submitter ⚠
p.Thr231Ser Single submitter ⚠
p.Thr65Ser Single submitter ⚠
p.Thr904Ala Single submitter ⚠
p.Thr904Pro Single submitter ⚠
p.Trp591Ser Single submitter ⚠
p.Tyr1246His Single submitter ⚠
p.Tyr1277Cys Single submitter ⚠
p.Tyr1291Cys Single submitter ⚠
p.Val1045Gly Single submitter ⚠
p.Val1066Leu Single submitter ⚠
p.Val1111Ile Single submitter ⚠
p.Val1210Met Single submitter ⚠
p.Val1354Met Single submitter ⚠
p.Val290Ile Single submitter ⚠
p.Val433Met Single submitter ⚠
p.Val478Ile Single submitter ⚠
p.Val500Leu Single submitter ⚠
p.Val676Met Single submitter ⚠
p.Val681Met Single submitter ⚠
p.Val831Ala Single submitter ⚠
p.Val996Met Single submitter ⚠
p.Leu1224Arg No assertion criteria ⚠