CDK10 p.Cys8=
c.24C>T · VCV4832812
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.104%, amr)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.28 | donor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -2.5 |
| Overall | ||
| CADD | 12.46 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.104%
Admixed American · 62/59,776 alleles
Filtering AF
0.083%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0755%
Overall
0.00491%
79/1,610,416 alleles · rare
exomes 55/1,458,280 · genomes 24/152,136 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.104% | 964 |
| Remaining individualsnot grpmax-eligible | 0.00963% | 10,386 |
| South Asian | 0.00883% | 11,330 |
| East Asian | 0.00224% | 44,640 |
| African / African-American | 0.00133% | 74,922 |
| European (non-Finnish) | 8.49e-05% | 1,178,312 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CDK10
- Protein
- p.Cys8=
- Coding
- c.24C>T
- MANE Select
- NM_052988
- Type
- single nucleotide variant
- Location
- chr16:89686734 (GRCh38)
- Gene constraint
- LOEUF 1.344 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.27
Similar variants
- CDK10 p.Cys8Ter Pathogenic/Likely pathogenic ★★ same residue
- CDK10 p.Arg345Gln Uncertain significance ★★ ⚠ same condition
- CDK10 p.Arg57Gln Uncertain significance ★★ ⚠ same condition
- CDK10 p.Arg57Trp Uncertain significance ★★ same condition
- CDK10 p.Glu9Gln Uncertain significance ★★ ⚠ same condition
- CDK10 p.Leu229Val Uncertain significance ★★ ⚠ same condition
- CDK10 p.Leu269Val Uncertain significance ★★ same condition
- CDK10 p.Met195Val 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/cdk10-p-cys8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown