CCND1 — 34 ClinVar variants
All ClinVar germline CCND1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
7 Benign · 1 Benign/Likely benign · 6 Likely benign · 20 Uncertain significance
Full CCND1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCND1 p.Ile251Met Uncertain significance Multiple submitters
- CCND1 p.Ala190Val Uncertain significance Single submitter
- CCND1 p.Ala262Val Uncertain significance Single submitter
- CCND1 p.Arg231Gly Uncertain significance Single submitter
- CCND1 p.Asp267Gly Uncertain significance Single submitter
- CCND1 p.Asp294Glu Uncertain significance Single submitter
- CCND1 p.Gln213Arg Uncertain significance Single submitter
- CCND1 p.Met266Thr Uncertain significance Single submitter
- CCND1 p.Ser111Phe Uncertain significance Single submitter
- CCND1 p.Ser234Thr Uncertain significance Single submitter
- CCND1 p.Thr230Ile Uncertain significance Single submitter
-
CCND1 p.Arg26Trp
Uncertain significance
No assertion criteria
familial long QT syndrome
Predictors split 5
The independent predictors disagree with each other — read with care.
All CCND1 variants
Benign 7
- c.415-170G>C Multiple submitters
- c.575-120G>A Multiple submitters
- c.724-205A>G Multiple submitters
- c.724-26A>G Multiple submitters
- c.*65C>A Multiple submitters
- p.Phe223= Multiple submitters
- p.Pro241= Multiple submitters
Benign/Likely benign 1
- p.Arg245= Multiple submitters
Likely benign 6
- c.*771C>T Single submitter
- p.Pro220Ser Single submitter
- p.Val60= Single submitter
- p.Glu280del No assertion criteria CCND1-related disorder
- p.Leu217= No assertion criteria CCND1-related disorder
- p.Lys238= No assertion criteria CCND1-related disorder
Uncertain significance 20
- p.Ile251Met Multiple submitters ⚠
- c.198+4C>T Single submitter von Hippel-Lindau disease
- p.Ala187Val Single submitter ⚠
- p.Ala190Val Single submitter ⚠
- p.Ala262Val Single submitter ⚠
- p.Arg231Gly Single submitter ⚠
- p.Asp129fs Single submitter
- p.Asp267Gly Single submitter ⚠
- p.Asp294Glu Single submitter ⚠
- p.Gln213Arg Single submitter ⚠
- p.Leu215Val Single submitter ⚠
- p.Met266Thr Single submitter ⚠
- p.Pro79Ser Single submitter ⚠
- p.Ser111Phe Single submitter ⚠
- p.Ser234Thr Single submitter ⚠
- p.Thr156Ile Single submitter
- p.Thr230Ile Single submitter ⚠
- p.Val186Ala Single submitter ⚠
- p.Val290Met Single submitter ⚠
- p.Arg26Trp No assertion criteria familial long QT syndrome ⚠