CCNA1 — 56 ClinVar variants
All ClinVar germline CCNA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
4 Benign · 4 Likely benign · 48 Uncertain significance
Full CCNA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCNA1 c.-101C>G Uncertain significance Single submitter
- CCNA1 c.-19G>C Uncertain significance Single submitter
- CCNA1 c.-50C>T Uncertain significance Single submitter
- CCNA1 c.-51C>A Uncertain significance Single submitter
- CCNA1 c.-53G>A Uncertain significance Single submitter
- CCNA1 c.-68A>G Uncertain significance Single submitter
- CCNA1 c.-75G>A Uncertain significance Single submitter
- CCNA1 c.-83G>A Uncertain significance Single submitter
- CCNA1 p.Ala16Thr Uncertain significance Single submitter
- CCNA1 p.Ala224Ser Uncertain significance Single submitter
- CCNA1 p.Arg310Gln Uncertain significance Single submitter
- CCNA1 p.Arg392Gln Uncertain significance Single submitter
- CCNA1 p.Arg50Gly Uncertain significance Single submitter
- CCNA1 p.Asn68Asp Uncertain significance Single submitter
- CCNA1 p.Asp104Glu Uncertain significance Single submitter
- CCNA1 p.Asp92His Uncertain significance Single submitter
- CCNA1 p.Glu110Val Uncertain significance Single submitter
- CCNA1 p.Glu115Lys Uncertain significance Single submitter
- CCNA1 p.Gly111Val Uncertain significance Single submitter
- CCNA1 p.Gly90Glu Uncertain significance Single submitter
- CCNA1 p.His187Arg Uncertain significance Single submitter
- CCNA1 p.Leu125Phe Uncertain significance Single submitter
- CCNA1 p.Leu98Gln Uncertain significance Single submitter
- CCNA1 p.Lys400Asn Uncertain significance Single submitter
- CCNA1 p.Met141Thr Uncertain significance Single submitter
- CCNA1 p.Met1Leu Uncertain significance Single submitter
- CCNA1 p.Pro72Leu Uncertain significance Single submitter
- CCNA1 p.Pro86Ser Uncertain significance Single submitter
- CCNA1 p.Pro87Ser Uncertain significance Single submitter
- CCNA1 p.Ser107Leu Uncertain significance Single submitter
- CCNA1 p.Ser328Asn Uncertain significance Single submitter
- CCNA1 p.Ser4Ile Uncertain significance Single submitter
- CCNA1 p.Ser64Pro Uncertain significance Single submitter
- CCNA1 p.Thr137Ala Uncertain significance Single submitter
- CCNA1 p.Thr14Ala Uncertain significance Single submitter
- CCNA1 p.Thr201Met Uncertain significance Single submitter
- CCNA1 p.Thr247Ala Uncertain significance Single submitter
- CCNA1 p.Thr300Ser Uncertain significance Single submitter
- CCNA1 p.Tyr167Cys Uncertain significance Single submitter
- CCNA1 p.Tyr214His Uncertain significance Single submitter
- CCNA1 p.Val10Ala Uncertain significance Single submitter
- CCNA1 p.Val204Gly Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CCNA1 variants
Benign 4
- c.412+5C>A Multiple submitters
- p.Leu342= Multiple submitters
- p.Thr196= Multiple submitters
- p.Tyr63= Multiple submitters
Likely benign 4
- c.-50C>A Single submitter
- p.Ala224= Single submitter
- p.Gly123Ser Single submitter
- p.Ser145= Single submitter
Uncertain significance 48
- c.-101C>G Single submitter ⚠
- c.-19G>C Single submitter ⚠
- c.-50C>T Single submitter ⚠
- c.-51C>A Single submitter ⚠
- c.-53G>A Single submitter ⚠
- c.-68A>G Single submitter ⚠
- c.-75G>A Single submitter ⚠
- c.-83G>A Single submitter ⚠
- p.Ala16Thr Single submitter ⚠
- p.Ala224Ser Single submitter ⚠
- p.Arg310Gln Single submitter ⚠
- p.Arg392Gln Single submitter ⚠
- p.Arg50Gly Single submitter ⚠
- p.Asn301Lys Single submitter ⚠
- p.Asn68Asp Single submitter ⚠
- p.Asp104Glu Single submitter ⚠
- p.Asp92His Single submitter ⚠
- p.Glu110Val Single submitter ⚠
- p.Glu115Lys Single submitter ⚠
- p.Gly111Val Single submitter ⚠
- p.Gly90Glu Single submitter ⚠
- p.His187Arg Single submitter ⚠
- p.Ile195Val Single submitter ⚠
- p.Ile270Met Single submitter
- p.Ile389Lys Single submitter ⚠
- p.Leu125Phe Single submitter ⚠
- p.Leu98Gln Single submitter ⚠
- p.Lys400Asn Single submitter ⚠
- p.Met141Thr Single submitter ⚠
- p.Met1Leu Single submitter ⚠
- p.Phe227Leu Single submitter ⚠
- p.Pro72Leu Single submitter ⚠
- p.Pro86Ser Single submitter ⚠
- p.Pro87Ser Single submitter ⚠
- p.Ser107Leu Single submitter ⚠
- p.Ser328Asn Single submitter ⚠
- p.Ser4Ile Single submitter ⚠
- p.Ser64Pro Single submitter ⚠
- p.Thr137Ala Single submitter ⚠
- p.Thr14Ala Single submitter ⚠
- p.Thr201Met Single submitter ⚠
- p.Thr247Ala Single submitter ⚠
- p.Thr300Ser Single submitter ⚠
- p.Tyr167Cys Single submitter ⚠
- p.Tyr214His Single submitter ⚠
- p.Tyr338His Single submitter ⚠
- p.Val10Ala Single submitter ⚠
- p.Val204Gly Single submitter ⚠