CCNQ — 73 ClinVar variants
All ClinVar germline CCNQ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
4 Pathogenic · 2 Likely pathogenic · 26 Benign · 4 Benign/Likely benign · 17 Likely benign · 20 Uncertain significance
Full CCNQ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCNQ p.Ala172Gly Uncertain significance Single submitter
- CCNQ p.Ala194Thr Uncertain significance Single submitter
- CCNQ p.Ala21Val Uncertain significance Single submitter
- CCNQ p.Gly180Arg Uncertain significance Single submitter
- CCNQ p.His159Arg Uncertain significance Single submitter
- CCNQ p.Leu64Pro Uncertain significance Single submitter
- CCNQ p.Phe101Leu Uncertain significance Single submitter
- CCNQ p.Pro248Ser Uncertain significance Single submitter
- CCNQ p.Val168Ile Uncertain significance Single submitter
- CCNQ p.Val96Ala Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CCNQ p.Gly10Trp Benign/Likely benign Multiple submitters
- CCNQ p.Arg175Trp Uncertain significance Single submitter
- CCNQ p.Arg44Gln Uncertain significance Single submitter
- CCNQ p.Glu246Lys Uncertain significance Single submitter
- CCNQ p.Ile233Val Uncertain significance Single submitter
- CCNQ p.Phe221Leu Uncertain significance Single submitter
- CCNQ p.Pro208Ser Uncertain significance Single submitter
- CCNQ p.Ser112Phe Uncertain significance Single submitter
- CCNQ p.Tyr197Cys Uncertain significance Single submitter
- CCNQ p.Tyr67Cys Uncertain significance Single submitter
- CCNQ p.Val168Phe Likely benign Single submitter
All CCNQ variants
Pathogenic 4
- p.Gln219Ter Single submitter
- c.657+1G>A No assertion criteria syndactyly-telecanthus-anogenital and renal malformations syndrome
- c.658-1G>A No assertion criteria syndactyly-telecanthus-anogenital and renal malformations syndrome
- p.Asn102Ter No assertion criteria syndactyly-telecanthus-anogenital and renal malformations syndrome
Likely pathogenic 2
- p.Glu206Ter Single submitter
- p.Trp217Ter Single submitter syndactyly-telecanthus-anogenital and renal malformations syndrome
Benign 26
- c.113-85T>C Multiple submitters
- c.296+72C>T Multiple submitters
- c.297-320A>G Multiple submitters
- c.429+171C>T Multiple submitters
- c.429+8C>T Multiple submitters
- c.657+144C>T Multiple submitters
- p.Ala209= Multiple submitters
- p.Glu61Lys Multiple submitters
- c.113-224A>G Single submitter
- c.113-5C>T Single submitter
- c.429+18G>C Single submitter
- c.430-12G>A Single submitter
- c.430-13C>T Single submitter
- c.657+271C>T Single submitter
- c.658-14CTT[2] Single submitter
- c.658-9T>C Single submitter
- p.Ala167= Single submitter
- p.Ala194= Single submitter
- p.Ala213= Single submitter
- p.Ala66= Single submitter
- p.Gln19fs Single submitter
- p.Gly6fs Single submitter
- p.Gly7fs Single submitter
- p.Gly9= Single submitter CCNQ-related disorder
- p.Ile191= Single submitter
- p.Trp115Cys Single submitter
Benign/Likely benign 4
- p.Asp223= Multiple submitters
- p.Glu116= Multiple submitters
- p.Gly10Trp Multiple submitters ⚠
- p.Pro216= Multiple submitters
Likely benign 17
- p.Arg113His Multiple submitters neutropenia
- p.Cys60= Multiple submitters
- c.113-17C>T Single submitter
- c.297-18T>C Single submitter
- p.Ala192= Single submitter
- p.Arg175= Single submitter
- p.Glu23= Single submitter
- p.Gly15= Single submitter
- p.His27= Single submitter
- p.Ser120= Single submitter
- p.Ser151= Single submitter
- p.Thr242Ala Single submitter
- p.Tyr241Cys Single submitter CCNQ-related disorder
- p.Val168Phe Single submitter ⚠
- c.297-4G>A No assertion criteria CCNQ-related disorder
- c.-5G>A No assertion criteria CCNQ-related disorder
- p.Ala3= No assertion criteria CCNQ-related disorder
Uncertain significance 20
- p.Ala172Gly Single submitter ⚠
- p.Ala194Thr Single submitter ⚠
- p.Ala21Val Single submitter ⚠
- p.Arg175Trp Single submitter ⚠
- p.Arg44Gln Single submitter ⚠
- p.Glu17fs Single submitter syndactyly-telecanthus-anogenital and renal malformations syndrome
- p.Glu246Lys Single submitter ⚠
- p.Gly180Arg Single submitter ⚠
- p.His159Arg Single submitter ⚠
- p.Ile233Val Single submitter ⚠
- p.Leu64Pro Single submitter ⚠
- p.Phe101Leu Single submitter ⚠
- p.Phe221Leu Single submitter ⚠
- p.Pro208Ser Single submitter ⚠
- p.Pro248Ser Single submitter ⚠
- p.Ser112Phe Single submitter ⚠
- p.Tyr197Cys Single submitter ⚠
- p.Tyr67Cys Single submitter ⚠
- p.Val168Ile Single submitter ⚠
- p.Val96Ala Single submitter ⚠