CDKN2C — 20 ClinVar variants
All ClinVar germline CDKN2C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
1 Likely pathogenic · 5 Likely benign · 14 Uncertain significance
Full CDKN2C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDKN2C p.Ala127Asp Uncertain significance Single submitter
- CDKN2C p.Ala161Gly Uncertain significance Single submitter
- CDKN2C p.Arg39Ser Uncertain significance Single submitter
- CDKN2C p.Asp17Tyr Uncertain significance Single submitter
- CDKN2C p.Glu8Asp Uncertain significance Single submitter
- CDKN2C p.Ile98Val Uncertain significance Single submitter
- CDKN2C p.Leu21Ile Uncertain significance Single submitter
- CDKN2C p.Pro4Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CDKN2C variants
Likely pathogenic 1
- p.Ala77Glu No assertion criteria plasma cell myeloma
Likely benign 5
- p.Ala77= Single submitter
- p.Asn159= Single submitter
- p.Gly103= Single submitter
- p.Gly160Arg Single submitter
- p.Pro63= Single submitter
Uncertain significance 14
- p.Ala127Asp Single submitter ⚠
- p.Ala161Gly Single submitter ⚠
- p.Ala77Val Single submitter ⚠
- p.Arg39Ser Single submitter ⚠
- p.Asp17His Single submitter ⚠
- p.Asp17Tyr Single submitter ⚠
- p.Asp64His Single submitter ⚠
- p.Glu8Asp Single submitter ⚠
- p.Glu99Lys Single submitter ⚠
- p.Gly6= Single submitter
- p.Ile98Val Single submitter ⚠
- p.Leu21Ile Single submitter ⚠
- p.Lys136Asn Single submitter ⚠
- p.Pro4Ala Single submitter ⚠