PTGS2 — 46 ClinVar variants
All ClinVar germline PTGS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
3 Benign · 7 Likely benign · 36 Uncertain significance
Full PTGS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTGS2 p.Ala436Ser Uncertain significance Single submitter
- PTGS2 p.Ala529Ser Uncertain significance Single submitter
- PTGS2 p.Ala529Val Uncertain significance Single submitter
- PTGS2 p.Ala581Gly Uncertain significance Single submitter
- PTGS2 p.Ala581Thr Uncertain significance Single submitter
- PTGS2 p.Arg228Ser Uncertain significance Single submitter
- PTGS2 p.Asn580Ser Uncertain significance Single submitter
- PTGS2 p.Asp311Tyr Uncertain significance Single submitter
- PTGS2 p.Asp483Asn Uncertain significance Single submitter
- PTGS2 p.Asp590Asn Uncertain significance Single submitter
- PTGS2 p.Gln543Glu Uncertain significance Single submitter
- PTGS2 p.Gly537Ser Uncertain significance Single submitter
- PTGS2 p.His342Gln Uncertain significance Single submitter
- PTGS2 p.Leu280Pro Uncertain significance Single submitter
- PTGS2 p.Leu400Phe Uncertain significance Single submitter
- PTGS2 p.Lys355Glu Uncertain significance Single submitter
- PTGS2 p.Lys471Glu Uncertain significance Single submitter
- PTGS2 p.Pro571Ala Uncertain significance Single submitter
- PTGS2 p.Ser100Asn Uncertain significance Single submitter
- PTGS2 p.Ser34Thr Uncertain significance Single submitter
- PTGS2 p.Ser565Leu Uncertain significance Single submitter
- PTGS2 p.Thr406Ser Uncertain significance Single submitter
- PTGS2 p.Thr578Ile Uncertain significance Single submitter
- PTGS2 p.Thr578Ser Uncertain significance Single submitter
- PTGS2 p.Thr73Ala Uncertain significance Single submitter
- PTGS2 p.Val524Ile Uncertain significance Single submitter
- PTGS2 p.Val595Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- PTGS2 p.Ala475Thr Uncertain significance Single submitter
- PTGS2 p.Asp300Asn Uncertain significance Single submitter
- PTGS2 p.Cys9Tyr Uncertain significance Single submitter
- PTGS2 p.Gln382His Uncertain significance Single submitter
- PTGS2 p.Glu325Val Uncertain significance Single submitter
- PTGS2 p.Leu370Val Uncertain significance Single submitter
- PTGS2 p.Lys471Asn Uncertain significance Single submitter
- PTGS2 p.Pro92Thr Uncertain significance Single submitter
- PTGS2 p.Ser55Leu Uncertain significance Single submitter
All PTGS2 variants
Likely benign 7
- c.1257+8T>C Single submitter
- c.640-9A>C Single submitter
- p.Arg499= Single submitter
- p.Asn86= Single submitter
- p.Asp589= Single submitter
- p.Glu366= Single submitter
- p.Tyr240= Single submitter
Uncertain significance 36
- p.Ala436Ser Single submitter ⚠
- p.Ala475Thr Single submitter ⚠
- p.Ala529Ser Single submitter ⚠
- p.Ala529Val Single submitter ⚠
- p.Ala581Gly Single submitter ⚠
- p.Ala581Thr Single submitter ⚠
- p.Arg228Ser Single submitter ⚠
- p.Asn580Ser Single submitter ⚠
- p.Asp300Asn Single submitter ⚠
- p.Asp311Tyr Single submitter ⚠
- p.Asp483Asn Single submitter ⚠
- p.Asp590Asn Single submitter ⚠
- p.Cys9Tyr Single submitter ⚠
- p.Gln382His Single submitter ⚠
- p.Gln543Glu Single submitter ⚠
- p.Glu325Val Single submitter ⚠
- p.Gly537Ser Single submitter ⚠
- p.His342Gln Single submitter ⚠
- p.Leu280Pro Single submitter ⚠
- p.Leu370Val Single submitter ⚠
- p.Leu400Phe Single submitter ⚠
- p.Lys355Glu Single submitter ⚠
- p.Lys471Asn Single submitter ⚠
- p.Lys471Glu Single submitter ⚠
- p.Pro571Ala Single submitter ⚠
- p.Pro92Thr Single submitter ⚠
- p.Ser100Asn Single submitter ⚠
- p.Ser34Thr Single submitter ⚠
- p.Ser55Leu Single submitter ⚠
- p.Ser565Leu Single submitter ⚠
- p.Thr406Ser Single submitter ⚠
- p.Thr578Ile Single submitter ⚠
- p.Thr578Ser Single submitter ⚠
- p.Thr73Ala Single submitter ⚠
- p.Val524Ile Single submitter ⚠
- p.Val595Ala Single submitter ⚠