PDS5B — 122 ClinVar variants

All ClinVar germline PDS5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

3 Benign · 3 Likely benign · 116 Uncertain significance

Full PDS5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 116

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 72

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

Predictors split 44

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

All PDS5B variants

Benign 3

p.Asn284= Multiple submitters
p.Asp1202= Multiple submitters
p.Thr471Ala Single submitter

Likely benign 3

p.Asn1436= Single submitter
p.Leu1093= Single submitter
p.Ser672= Single submitter

Uncertain significance 116

p.Ala1399Gly Single submitter ⚠
p.Ala1399Thr Single submitter ⚠
p.Ala520Val Single submitter ⚠
p.Ala576Ser Single submitter ⚠
p.Ala576Val Single submitter ⚠
p.Ala633Thr Single submitter ⚠
p.Ala709Val Single submitter ⚠
p.Ala735Val Single submitter ⚠
p.Ala777Val Single submitter ⚠
p.Ala828Ser Single submitter ⚠
p.Arg1201Ser Single submitter ⚠
p.Arg1248Gln Single submitter ⚠
p.Arg1392Cys Single submitter ⚠
p.Arg1392His Single submitter ⚠
p.Arg1395Cys Single submitter ⚠
p.Arg1438Trp Single submitter ⚠
p.Arg457Trp Single submitter ⚠
p.Arg581Cys Single submitter ⚠
p.Arg724Cys Single submitter ⚠
p.Arg724His Single submitter ⚠
p.Arg932Cys Single submitter ⚠
p.Asn284Ser Single submitter ⚠
p.Asn589Ser Single submitter ⚠
p.Asn842Lys Single submitter ⚠
p.Asp105Tyr Single submitter PDS5B-related developmental disorder ⚠
p.Asp1102Gly Single submitter ⚠
p.Asp1202His Single submitter ⚠
p.Asp24His Single submitter ⚠
p.Asp428Gly Single submitter ⚠
p.Asp756Gly Single submitter ⚠
p.Cys476Trp Single submitter ⚠
p.Gln1333Arg Single submitter ⚠
p.Gln316Pro Single submitter ⚠
p.Glu1153Gly Single submitter ⚠
p.Glu1278Asp Single submitter ⚠
p.Glu1331Gly Single submitter ⚠
p.Glu1338Asp Single submitter ⚠
p.Glu1409Gln Single submitter ⚠
p.Glu1431Gly Single submitter ⚠
p.Glu616Lys Single submitter ⚠
p.Glu701Asp Single submitter ⚠
p.Glu741Lys Single submitter ⚠
p.Glu816Gln Single submitter ⚠
p.Gly1168Ala Single submitter ⚠
p.Gly1253Asp Single submitter ⚠
p.Gly1253Ser Single submitter ⚠
p.Gly1288Ala Single submitter ⚠
p.His442Arg Single submitter ⚠
p.His442Tyr Single submitter ⚠
p.His752Leu Single submitter ⚠
p.His772Tyr Single submitter ⚠
p.His843Tyr Single submitter ⚠
p.His859Arg Single submitter ⚠
p.His896Gln Single submitter ⚠
p.Ile1274Met Single submitter ⚠
p.Ile1274Thr Single submitter ⚠
p.Ile1364Asn Single submitter ⚠
p.Ile184Val Single submitter ⚠
p.Ile525Val Single submitter ⚠
p.Ile770Val Single submitter ⚠
p.Ile857Val Single submitter ⚠
p.Ile886Val Single submitter ⚠
p.Ile911Val Single submitter ⚠
p.Ile996Val Single submitter ⚠
p.Leu210Phe Single submitter ⚠
p.Leu621Phe Single submitter ⚠
p.Lys1031Thr Single submitter ⚠
p.Lys1042Arg Single submitter ⚠
p.Lys1143Arg Single submitter ⚠
p.Lys1200Arg Single submitter ⚠
p.Lys1287Arg Single submitter ⚠
p.Lys1303Arg Single submitter ⚠
p.Lys1317Arg Single submitter ⚠
p.Lys507Arg Single submitter ⚠
p.Met1073Val Single submitter ⚠
p.Met1231Arg Single submitter ⚠
p.Met410Leu Single submitter ⚠
p.Met495Val Single submitter ⚠
p.Met546Val Single submitter ⚠
p.Met823Val Single submitter ⚠
p.Phe692Leu Single submitter ⚠
p.Pro1125Leu Single submitter ⚠
p.Pro1125Ser Single submitter ⚠
p.Pro1284Arg Single submitter ⚠
p.Pro1284Leu Single submitter ⚠
p.Pro1322Leu Single submitter ⚠
p.Pro1384Ser Single submitter ⚠
p.Pro569Ala Single submitter ⚠
p.Pro950Thr Single submitter ⚠
p.Ser1139Leu Single submitter ⚠
p.Ser1177Phe Single submitter ⚠
p.Ser1198Asn Single submitter ⚠
p.Ser1198Cys Single submitter ⚠
p.Ser1209Thr Single submitter ⚠
p.Ser1343Arg Single submitter ⚠
p.Ser1369Cys Single submitter ⚠
p.Ser1369Pro Single submitter ⚠
p.Ser1396Cys Single submitter ⚠
p.Ser1433Ala Single submitter ⚠
p.Ser754Cys Single submitter ⚠
p.Ser844Ile Single submitter ⚠
p.Thr1220Lys Single submitter ⚠
p.Thr1220Met Single submitter ⚠
p.Thr1255Met Single submitter ⚠
p.Thr1337Arg Single submitter ⚠
p.Thr1434Ala Single submitter ⚠
p.Thr6Asn Single submitter ⚠
p.Thr98Ala Single submitter ⚠
p.Val1092Ile Single submitter ⚠
p.Val1222Ile Single submitter ⚠
p.Val1391Ile Single submitter ⚠
p.Val1419Gly Single submitter ⚠
p.Val1435Ile Single submitter ⚠
p.Val963Leu Single submitter ⚠
p.Val963Met Single submitter ⚠
p.Val979Leu Single submitter ⚠