CFAP418 p.Ser103fs
c.307dup · VCV4901116
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
C8orf37-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 3 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CFAP418
- Protein
- p.Ser103fs
- Coding
- c.307dup
- MANE Select
- NM_177965
- Type
- Duplication
- Location
- chr8:95260468 (GRCh38)
- Gene constraint
- LOEUF 1.642 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 75.73
Disease context
C8orf37-related disorder
Similar variants
- CFAP418 c.375-10dup Likely benign same condition
- CFAP418 p.Arg177Trp Pathogenic/Likely pathogenic ★★ same condition
- CFAP418 p.Trp147Ter Pathogenic/Likely pathogenic ★★ same condition
- CFAP418 p.Ala178Val Uncertain significance ★★ ⚠ same condition
- CFAP418 p.Ala45Gly Uncertain significance ★★ ⚠ same condition
- CFAP418 c.243+3A>C Likely pathogenic ★ same condition
- CFAP418 c.375-1G>C Pathogenic ★ same condition
- CFAP418 c.471-1G>T 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/cfap418-p-ser103fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown