PDE4A — 87 ClinVar variants

All ClinVar germline PDE4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

6 Benign · 1 Benign/Likely benign · 8 Likely benign · 72 Uncertain significance

Full PDE4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 65

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 56

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

Predictors split 9

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

All PDE4A variants

Benign 6

p.Ala590= Multiple submitters
p.Arg20= Multiple submitters
p.Arg608= Multiple submitters
p.Glu732Gly Multiple submitters
p.Ser279= Multiple submitters
c.783+4T>G Single submitter

Benign/Likely benign 1

p.Pro331Ser Multiple submitters

Likely benign 8

p.Ala872Thr Single submitter
p.Arg684Gln Single submitter
p.Arg799Pro Single submitter
p.Asn371= Single submitter
p.Ser760= Single submitter
p.Thr247= Single submitter
p.Thr392= Single submitter
p.Pro325= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 72

c.620+2T>C Single submitter
p.Ala428Thr Single submitter ⚠
p.Ala508Asp Single submitter ⚠
p.Ala757Val Single submitter ⚠
p.Ala765Thr Single submitter ⚠
p.Ala813Val Single submitter ⚠
p.Ala833Val Single submitter ⚠
p.Ala843Val Single submitter ⚠
p.Ala858Asp Single submitter ⚠
p.Ala858Thr Single submitter ⚠
p.Ala861Thr Single submitter ⚠
p.Arg189Gln Single submitter
p.Arg315Gln Single submitter ⚠
p.Arg315Ter Single submitter
p.Arg354Gln Single submitter ⚠
p.Arg402Gln Single submitter ⚠
p.Arg584Gln Single submitter ⚠
p.Arg676Gln Single submitter ⚠
p.Arg696Ser Single submitter ⚠
p.Arg857Thr Single submitter ⚠
p.Asn482Ser Single submitter ⚠
p.Asp517Asn Single submitter ⚠
p.Asp578Asn Single submitter ⚠
p.Gln523Arg Single submitter ⚠
p.Gln685Lys Single submitter ⚠
p.Gln731Leu Single submitter ⚠
p.Gln758Arg Single submitter ⚠
p.Glu307Lys Single submitter ⚠
p.Glu362Gly Single submitter ⚠
p.Glu639Gln Single submitter ⚠
p.Glu719Gln Single submitter ⚠
p.Glu743Asp Single submitter ⚠
p.Glu744Gln Single submitter ⚠
p.Glu775Ala Single submitter ⚠
p.Glu801Lys Single submitter ⚠
p.Gly864Arg Single submitter ⚠
p.Gly867Arg Single submitter ⚠
p.Gly879Arg Single submitter ⚠
p.Gly882Asp Single submitter ⚠
p.His505Tyr Single submitter ⚠
p.His700Asn Single submitter ⚠
p.Ile379Val Single submitter ⚠
p.Ile521fs Single submitter
p.Ile750Thr Single submitter ⚠
p.Leu836Phe Single submitter ⚠
p.Met586Thr Single submitter ⚠
p.Pro323Arg Single submitter ⚠
p.Pro323Leu Single submitter ⚠
p.Pro595Ala Single submitter ⚠
p.Pro689Leu Single submitter ⚠
p.Pro698Arg Single submitter ⚠
p.Pro834Leu Single submitter ⚠
p.Pro874Leu Single submitter ⚠
p.Ser769Phe Single submitter ⚠
p.Ser797Leu Single submitter ⚠
p.Ser807Arg Single submitter ⚠
p.Ser828Phe Single submitter ⚠
p.Ser9fs Single submitter
p.Thr304Met Single submitter ⚠
p.Thr421Met Single submitter ⚠
p.Thr445Ile Single submitter
p.Thr551Ile Single submitter ⚠
p.Thr749Asn Single submitter ⚠
p.Val191Ala Single submitter ⚠
p.Val298Met Single submitter ⚠
p.Val416Leu Single submitter ⚠
p.Val441Met Single submitter ⚠
p.Val447Ile Single submitter ⚠
p.Val638Met Single submitter ⚠
p.Val803Leu Single submitter ⚠
p.Leu30Gln No assertion criteria
p.Thr712Met No assertion criteria ⚠