PDE5A — 100 ClinVar variants

All ClinVar germline PDE5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →

6 Benign · 3 Benign/Likely benign · 8 Likely benign · 83 Uncertain significance

Full PDE5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 85

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 29

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

All PDE5A variants

Benign 6

p.Glu808= Multiple submitters
p.Lys480Gln Multiple submitters
p.Pro671= Multiple submitters
c.2490+3_2490+5dup Single submitter
p.Arg794= Single submitter
p.Leu641Pro Single submitter ⚠

Benign/Likely benign 3

c.2190-4G>A Multiple submitters
p.Glu119Val Multiple submitters
p.Glu475= Multiple submitters

Likely benign 8

p.Arg740Lys Multiple submitters
p.Asp654= Single submitter
p.His274= Single submitter
p.His670= Single submitter
p.Ile778Thr Single submitter ⚠
p.Met863Thr Single submitter
p.Thr357= Single submitter
p.Thr784Ser Single submitter

Uncertain significance 83

p.Ala235Val Single submitter ⚠
p.Ala282Val Single submitter ⚠
p.Ala337Gly Single submitter ⚠
p.Ala356Val Single submitter ⚠
p.Ala404Thr Single submitter ⚠
p.Ala545Val Single submitter ⚠
p.Arg203Cys Single submitter ⚠
p.Arg203His Single submitter ⚠
p.Arg222Cys Single submitter ⚠
p.Arg222His Single submitter ⚠
p.Arg597Lys Single submitter ⚠
p.Arg658His Single submitter ⚠
p.Arg731Ser Single submitter ⚠
p.Arg732Gln Single submitter ⚠
p.Arg777Gln Single submitter ⚠
p.Arg88His Single submitter ⚠
p.Asn226Lys Single submitter ⚠
p.Asn442Asp Single submitter ⚠
p.Asn485Lys Single submitter ⚠
p.Asn587Lys Single submitter ⚠
p.Asn742Ser Single submitter ⚠
p.Asn866Asp Single submitter ⚠
p.Asp164Asn Single submitter ⚠
p.Asp581Val Single submitter ⚠
p.Asp640Glu Single submitter ⚠
p.Asp656Gly Single submitter ⚠
p.Asp791Glu Single submitter ⚠
p.Asp844Gly Single submitter ⚠
p.Asp90Asn Single submitter ⚠
p.Cys268Tyr Single submitter ⚠
p.Gln445Glu Single submitter ⚠
p.Gln586Arg Single submitter ⚠
p.Gln589His Single submitter ⚠
p.Gln743Leu Single submitter ⚠
p.Gln743Lys Single submitter ⚠
p.Glu145Asp Single submitter ⚠
p.Glu321Lys Single submitter ⚠
p.Glu793Lys Single submitter ⚠
p.Glu808Lys Single submitter ⚠
p.Glu830Gln Single submitter ⚠
p.Gly146Ala Single submitter ⚠
p.Gly292Arg Single submitter ⚠
p.Gly292Ser Single submitter ⚠
p.Gly441Arg Single submitter ⚠
p.Gly819Arg Single submitter ⚠
p.His683Tyr Single submitter ⚠
p.Ile340Thr Single submitter ⚠
p.Ile371Val Single submitter ⚠
p.Ile424Ser Single submitter ⚠
p.Ile648Thr Single submitter ⚠
p.Ile665Val Single submitter ⚠
p.Ile680Val Single submitter ⚠
p.Ile739Met Single submitter ⚠
p.Ile774Val Single submitter ⚠
p.Leu213Pro Single submitter ⚠
p.Leu314Pro Single submitter ⚠
p.Leu319Phe Single submitter ⚠
p.Leu470Ile Single submitter ⚠
p.Leu727Pro Single submitter ⚠
p.Leu804Pro Single submitter ⚠
p.Lys272Asn Single submitter ⚠
p.Lys460Glu Single submitter ⚠
p.Lys603Glu Single submitter ⚠
p.Lys795Asn Single submitter ⚠
p.Met625Thr Single submitter ⚠
p.Ser128Pro Single submitter ⚠
p.Ser377Ala Single submitter ⚠
p.Ser527Leu Single submitter ⚠
p.Ser663Cys Single submitter ⚠
p.Ser78Pro Single submitter ⚠
p.Ser78Thr Single submitter ⚠
p.Ser92Gly Single submitter ⚠
p.Thr137Asn Single submitter ⚠
p.Thr399Ala Single submitter ⚠
p.Thr399Ile Single submitter ⚠
p.Thr454Ile Single submitter ⚠
p.Thr802Ser Single submitter ⚠
p.Thr98Ala Single submitter ⚠
p.Trp435Arg Single submitter ⚠
p.Tyr411Ser Single submitter ⚠
p.Val415Ala Single submitter ⚠
p.Val443Ile Single submitter ⚠
p.Val67Leu Single submitter ⚠