PSMC2 — 20 ClinVar variants
All ClinVar germline PSMC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
2 Likely benign · 18 Uncertain significance
Full PSMC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMC2 p.Ala235Val Uncertain significance Single submitter
- PSMC2 p.Ala24Val Uncertain significance Single submitter
- PSMC2 p.Ala7Ser Uncertain significance Single submitter
- PSMC2 p.Arg360Cys Uncertain significance Single submitter
- PSMC2 p.Arg375Gln Uncertain significance Single submitter
- PSMC2 p.Asp347Glu Uncertain significance Single submitter
- PSMC2 p.Gln47His Uncertain significance Single submitter
- PSMC2 p.Glu14Ala Uncertain significance Single submitter
- PSMC2 p.Gly251Cys Uncertain significance Single submitter
- PSMC2 p.Ile101Thr Uncertain significance Single submitter
- PSMC2 p.Ile134Thr Uncertain significance Single submitter
- PSMC2 p.Ile52Phe Uncertain significance Single submitter
- PSMC2 p.Lys17Arg Uncertain significance Single submitter
- PSMC2 p.Pro109Ser Uncertain significance Single submitter
- PSMC2 p.Ser344Asn Uncertain significance Single submitter
- PSMC2 p.Thr40Ser Uncertain significance Single submitter
- PSMC2 p.Thr63Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PSMC2 variants
Uncertain significance 18
- p.Ala235Val Single submitter ⚠
- p.Ala24Val Single submitter ⚠
- p.Ala412Ser Single submitter ⚠
- p.Ala7Ser Single submitter ⚠
- p.Arg360Cys Single submitter ⚠
- p.Arg375Gln Single submitter ⚠
- p.Asp347Glu Single submitter ⚠
- p.Gln47His Single submitter ⚠
- p.Glu14Ala Single submitter ⚠
- p.Gly251Cys Single submitter ⚠
- p.Ile101Thr Single submitter ⚠
- p.Ile134Thr Single submitter ⚠
- p.Ile52Phe Single submitter ⚠
- p.Lys17Arg Single submitter ⚠
- p.Pro109Ser Single submitter ⚠
- p.Ser344Asn Single submitter ⚠
- p.Thr40Ser Single submitter ⚠
- p.Thr63Ala Single submitter ⚠