COPS3 — 26 ClinVar variants
All ClinVar germline COPS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Benign · 2 Likely benign · 23 Uncertain significance
Full COPS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COPS3 p.Ile228Thr Uncertain significance Single submitter
- COPS3 p.Leu103Ile Uncertain significance Single submitter
- COPS3 p.Leu328Phe Uncertain significance Single submitter
- COPS3 p.Met341Val Uncertain significance Single submitter
- COPS3 p.Met380Thr Uncertain significance Single submitter
- COPS3 p.Met68Lys Uncertain significance Single submitter
- COPS3 p.Ser70Asn Uncertain significance Single submitter
- COPS3 p.Ser70Thr Uncertain significance Single submitter
- COPS3 p.Thr245Ile Uncertain significance Single submitter
- COPS3 p.Thr97Ile Uncertain significance Single submitter
- COPS3 p.Val58Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- COPS3 p.Ala371Gly Uncertain significance Single submitter
- COPS3 p.Arg119Gln Uncertain significance Single submitter
- COPS3 p.Asn109Ile Uncertain significance Single submitter
- COPS3 p.Gln308Arg Uncertain significance Single submitter
- COPS3 p.Gln82His Uncertain significance Single submitter
- COPS3 p.Glu75Lys Uncertain significance Single submitter
- COPS3 p.Ile351Val Uncertain significance Single submitter
- COPS3 p.Lys30Asn Uncertain significance Single submitter
- COPS3 p.Pro160Leu Uncertain significance Single submitter
- COPS3 p.Ser350Asn Uncertain significance Single submitter
- COPS3 p.Thr76Met Uncertain significance Single submitter
- COPS3 p.Tyr185Cys Uncertain significance Single submitter
All COPS3 variants
Benign 1
- p.Ala2= Single submitter
Likely benign 2
- c.1024-10C>T Single submitter
- p.Ala17= Single submitter
Uncertain significance 23
- p.Ala371Gly Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Asn109Ile Single submitter ⚠
- p.Gln308Arg Single submitter ⚠
- p.Gln82His Single submitter ⚠
- p.Glu75Lys Single submitter ⚠
- p.Ile228Thr Single submitter ⚠
- p.Ile351Val Single submitter ⚠
- p.Leu103Ile Single submitter ⚠
- p.Leu328Phe Single submitter ⚠
- p.Lys30Asn Single submitter ⚠
- p.Met341Val Single submitter ⚠
- p.Met380Thr Single submitter ⚠
- p.Met68Lys Single submitter ⚠
- p.Pro160Leu Single submitter ⚠
- p.Ser350Asn Single submitter ⚠
- p.Ser70Asn Single submitter ⚠
- p.Ser70Thr Single submitter ⚠
- p.Thr245Ile Single submitter ⚠
- p.Thr76Met Single submitter ⚠
- p.Thr97Ile Single submitter ⚠
- p.Tyr185Cys Single submitter ⚠
- p.Val58Ile Single submitter ⚠