CEP78 p.Phe15fs
c.44del · VCV4903483
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
CEP78-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.48 | GERP -0.18, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CEP78
- Protein
- p.Phe15fs
- Coding
- c.44del
- MANE Select
- NM_001330691
- Type
- Deletion
- Location
- chr9:78236393 (GRCh38)
- Gene constraint
- LOEUF 1.531 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 64.28
Disease context
CEP78-related disorder
Similar variants
- CEP78 p.Glu472fs Pathogenic/Likely pathogenic ★★ same condition
- CEP78 p.Lys179fs Pathogenic ★★ same condition
- CEP78 p.Ser485fs Pathogenic/Likely pathogenic ★★ same condition
- CEP78 p.Trp212fs Pathogenic ★★ same condition
- CEP78 p.Asp67fs Likely pathogenic ★ same condition
- CEP78 p.Gly241fs Likely pathogenic ★ same condition
- CEP78 p.Gly420fs Likely pathogenic ★ same condition
- CEP78 p.Val71fs Likely pathogenic ★ 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/cep78-p-phe15fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown