CDK5 — 74 ClinVar variants
All ClinVar germline CDK5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 11 Benign · 46 Likely benign · 14 Uncertain significance
Full CDK5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDK5 p.Arg120His Uncertain significance Single submitter
- CDK5 p.Gly138Ala Uncertain significance Single submitter
- CDK5 p.His27Gln Uncertain significance Single submitter
- CDK5 p.Ile10Thr Uncertain significance Single submitter
- CDK5 p.Leu178Pro Uncertain significance Single submitter
- CDK5 p.Thr181Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CDK5 p.Met230Val Uncertain significance Multiple submitters
- CDK5 p.Arg120Cys Uncertain significance Single submitter
- CDK5 p.Asn121Ser Uncertain significance Single submitter
- CDK5 p.Leu107Phe Uncertain significance Single submitter
- CDK5 p.Pro240Leu Uncertain significance Single submitter
- CDK5 p.Val252Met Uncertain significance Single submitter
All CDK5 variants
Pathogenic 1
- c.580+1G>A No assertion criteria lissencephaly 7 with cerebellar hypoplasia
Likely pathogenic 1
- p.Arg50Gln Single submitter lissencephaly 7 with cerebellar hypoplasia
Conflicting classifications of pathogenicity 1
- c.651-9C>T Single submitter
Benign 11
- c.312+3G>A Multiple submitters
- c.483+11A>C Multiple submitters
- c.194+12G>A Single submitter
- c.408+20T>C Single submitter
- c.483+16G>A Single submitter
- c.484-11del Single submitter
- c.484-11dup Single submitter
- c.581-15_581-14del Single submitter
- c.711+8G>T Single submitter
- p.Ser72= Single submitter
- c.*5C>T No assertion criteria CDK5-related disorder
Likely benign 46
- c.408+9T>C Multiple submitters
- p.Pro240= Multiple submitters
- c.126+7C>T Single submitter
- c.255+10G>A Single submitter
- c.256-17C>T Single submitter
- c.312+13G>A Single submitter
- c.312+9A>G Single submitter
- c.313-15C>G Single submitter
- c.37+7G>A Single submitter
- c.38-17T>C Single submitter
- c.483+8A>G Single submitter
- c.484-13G>T Single submitter
- c.484-19C>T Single submitter
- c.580+14G>C Single submitter
- c.581-15C>T Single submitter
- c.650+14C>A Single submitter
- c.651-10C>T Single submitter
- c.651-18C>T Single submitter
- c.712-10C>G Single submitter
- c.712-11C>T Single submitter
- c.792+20G>A Single submitter
- p.Arg260= Single submitter
- p.Arg50= Single submitter
- p.Asn131= Single submitter
- p.Asn250= Single submitter
- p.Asn95= Single submitter
- p.Asp92= Single submitter
- p.Glu25= Single submitter
- p.Gly205= Single submitter
- p.Ile183= Single submitter
- p.Leu114= Single submitter
- p.Pro129= Single submitter
- p.Pro154= Single submitter
- p.Pro204= Single submitter
- p.Pro243= Single submitter
- p.Pro45= Single submitter
- p.Ser119= Single submitter
- p.Ser276= Single submitter
- p.Ser47= Single submitter
- p.Thr14= Single submitter
- p.Thr223= Single submitter
- p.Thr26= Single submitter
- p.Tyr90= Single submitter
- p.Val251= Single submitter
- p.Val69= Single submitter
- p.Glu279= No assertion criteria CDK5-related disorder
Uncertain significance 14
- p.Met230Val Multiple submitters ⚠
- c.37+4A>G Single submitter
- p.Arg120Cys Single submitter ⚠
- p.Arg120His Single submitter ⚠
- p.Asn121Ser Single submitter ⚠
- p.Gly138Ala Single submitter ⚠
- p.His27Gln Single submitter ⚠
- p.Ile10Thr Single submitter ⚠
- p.Leu107Phe Single submitter ⚠
- p.Leu178Pro Single submitter ⚠
- p.Pro240Leu Single submitter ⚠
- p.Thr181Met Single submitter ⚠
- p.Tyr179Ter Single submitter lissencephaly 7 with cerebellar hypoplasia
- p.Val252Met Single submitter ⚠