CDK4 c.522+8del
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
melanoma, cutaneous malignant, susceptibility to, 3
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +8 | near-intronic (+8 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP 0.54, phastCons 0.13 |
| Non-coding constraint | Z 1.01 | 1 kb window · o/e 0.92 · regional · uncalibrated |
Variant & gene context
- Gene
- CDK4
- Coding
- c.522+8del
- MANE Select
- NM_000075
- Type
- Deletion
- Location
- chr12:57750915 (GRCh38)
- Gene constraint
- LOEUF 0.61 · pLI 0.57 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 87.56 · 15 PDB
Similar variants
- CDK4 c.683+8del Likely benign ★★ same condition
- CDK4 c.522+10_522+13del Likely benign ★ same condition
- CDK4 c.632+7del Likely benign ★ same condition
- CDK4 c.505_522+5del Uncertain significance same condition
- CDK4 p.Arg24Cys Pathogenic ★★ same condition
- CDK4 p.Arg24His Pathogenic ★★ same condition
- CDK4 c.-100G>T Uncertain significance ★★ same condition
- CDK4 c.-2G>A Uncertain significance ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cdk4-c-522-plus-8del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown