CCNO p.Ala207fs
c.617dup · VCV4717057
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
primary ciliary dyskinesia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (3 of 3) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.52 | GERP -3.5, phastCons 0.001 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CCNO
- Protein
- p.Ala207fs
- Coding
- c.617dup
- MANE Select
- NM_021147
- Type
- Duplication
- Location
- chr5:55231810 (GRCh38)
- Gene constraint
- LOEUF 1.698 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.06
Disease context
primary ciliary dyskinesia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Primary ciliary dyskinesia (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Onset
- Neonatal
- Prevalence
- 1-5 / 10 000 (Pakistan)
Similar variants
- CCNO p.Gly85fs Pathogenic ★★ same condition
- CCNO p.Val143fs Pathogenic/Likely pathogenic ★★ same condition
- CCNO p.Val180fs Pathogenic/Likely pathogenic ★★ same condition
- CCNO p.Val90fs Pathogenic ★★ same condition
- CCNO p.Arg304fs Pathogenic ★ same condition
- CCNO p.Lys110fs Pathogenic ★ same condition
- CCNO p.Pro84fs Pathogenic ★ same condition
- CCNO p.Ala207Pro Uncertain significance ★ ⚠ same residue
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/ccno-p-ala207fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown