CDKN1A — 37 ClinVar variants
All ClinVar germline CDKN1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Pathogenic · 1 Conflicting · 2 Benign · 1 Benign/Likely benign · 11 Likely benign · 21 Uncertain significance
Full CDKN1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDKN1A p.Ala106Val Uncertain significance Single submitter
- CDKN1A p.Asp33His Uncertain significance Single submitter
- CDKN1A p.Gln29Pro Uncertain significance Single submitter
- CDKN1A p.Gly61Arg Uncertain significance Single submitter
- CDKN1A p.Gly72Ser Uncertain significance Single submitter
- CDKN1A p.His110Asp Uncertain significance Single submitter
- CDKN1A p.Ile42Asn Uncertain significance Single submitter
- CDKN1A p.Leu37Val Uncertain significance Single submitter
- CDKN1A p.Pro134Leu Uncertain significance Single submitter
- CDKN1A p.Val25Gly Uncertain significance Single submitter
- CDKN1A p.Asp52His Uncertain significance No assertion criteria
- CDKN1A p.Trp49Ser Uncertain significance No assertion criteria
Predictors split 9
The independent predictors disagree with each other — read with care.
- CDKN1A p.Arg84Gln Likely benign Multiple submitters
- CDKN1A p.Arg20His Uncertain significance Single submitter
- CDKN1A p.Arg32His Uncertain significance Single submitter
- CDKN1A p.Arg46His Uncertain significance Single submitter
- CDKN1A p.Arg48Gln Uncertain significance Single submitter
- CDKN1A p.Asp52Asn Uncertain significance Single submitter
- CDKN1A p.Glu28Lys Uncertain significance Single submitter
- CDKN1A p.Gly40Val Uncertain significance Single submitter
- CDKN1A p.Ser160Phe Uncertain significance Single submitter
All CDKN1A variants
Pathogenic 1
- p.Arg48Ter No assertion criteria urinary bladder cancer
Conflicting classifications of pathogenicity 1
- p.Cys117Tyr Single submitter ⚠
Benign 2
- p.Pro4Leu Single submitter
- p.Ser31Arg No assertion criteria CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1
Benign/Likely benign 1
- p.Pro4= Multiple submitters
Likely benign 11
Uncertain significance 21
- p.Ala106Val Single submitter ⚠
- p.Arg20His Single submitter ⚠
- p.Arg32His Single submitter ⚠
- p.Arg46His Single submitter ⚠
- p.Arg48Gln Single submitter ⚠
- p.Asp33His Single submitter ⚠
- p.Asp52Asn Single submitter ⚠
- p.Gln29Pro Single submitter ⚠
- p.Glu28Lys Single submitter ⚠
- p.Gly40Val Single submitter ⚠
- p.Gly61Arg Single submitter ⚠
- p.Gly72Ser Single submitter ⚠
- p.His110Asp Single submitter ⚠
- p.Ile42Asn Single submitter ⚠
- p.Leu37Val Single submitter ⚠
- p.Pro134Leu Single submitter ⚠
- p.Ser160Phe Single submitter ⚠
- p.Val25Gly Single submitter ⚠
- p.Asp52His No assertion criteria ⚠
- p.Trp49Ser No assertion criteria ⚠
- p.Trp65_Glu66delinsTer No assertion criteria urinary bladder cancer