CFAP251 p.Glu68fs
c.202del · VCV3382463
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
spermatogenic failure 33
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 2 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.66 | GERP -1.9 |
| Region caveats | ||
| Repeat context | tandem | GA-rich low complexity · ambiguous alignment · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CFAP251
- Protein
- p.Glu68fs
- Coding
- c.202del
- MANE Select
- NM_144668
- Type
- Deletion
- Location
- chr12:121921506 (GRCh38)
- Gene constraint
- LOEUF 0.829 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.84 · 1 PDB
- Residue 68
- the 'disordered' region
Similar variants
- CFAP251 p.Arg644fs Pathogenic ★ same condition
- CFAP251 c.3007-4915_3338-930del Pathogenic same condition
- CFAP251 p.Asp42fs Pathogenic same condition
- CFAP251 p.Leu530fs Pathogenic same condition
- CFAP251 p.Arg267Ter Pathogenic ★★ same condition
- CFAP251 p.Glu111Ter Pathogenic/Likely pathogenic ★★ same condition
- CFAP251 c.-20-2A>C Likely pathogenic ★ same condition
- CFAP251 p.Gln129Ter 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/cfap251-p-glu68fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown