CDKN1C p.Ser295Ter
c.884C>A · rs750876855 · VCV1810670
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a haploinsufficient gene (ClinGen); NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.2 | GERP 0.98, phastCons 1 |
| Overall | ||
| CADD | 36.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No allele count reported in gnomAD v4.1 (AN 1,557,340). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CDKN1C
- Protein
- p.Ser295Ter
- Coding
- c.884C>A
- MANE Select
- NM_001122630
- dbSNP
- rs750876855
- Type
- single nucleotide variant
- Location
- chr11:2884038 (GRCh38)
- Gene constraint
- LOEUF 1.943 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.93
- Residue 295
- the 'disordered' region
Similar variants
- CDKN1C p.Ser295= Likely benign ★★ same residue
- CDKN1C p.Ser295Leu Uncertain significance ★ ⚠ same residue
- CDKN1C p.Arg268Ser Likely pathogenic ★★ same type
- CDKN1C p.Asp263Asn Pathogenic ★★ ⚠ same type
- CDKN1C p.Cys19Ter Pathogenic/Likely pathogenic ★★ same type
- CDKN1C p.Gln219Ter Pathogenic ★★ same type
- CDKN1C p.Gln221Ter Pathogenic ★★ same type
- CDKN1C p.Gln230Ter Pathogenic ★★ same type
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/cdkn1c-p-ser295ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown