CEP83 p.Lys65fs
c.189_192dup · VCV4724158
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
nephronophthisis 18
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 4 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.1 | GERP 0.98, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CEP83
- Protein
- p.Lys65fs
- Coding
- c.189_192dup
- MANE Select
- NM_016122
- Type
- Duplication
- Location
- chr12:94411828 (GRCh38)
- Gene constraint
- LOEUF 0.807 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.90
Disease context
nephronophthisis 18 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Nephronophthisis (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Finland)
Similar variants
- CEP83 p.Arg378fs Pathogenic ★ same condition
- CEP83 p.His63_Glu69dup Uncertain significance ★ same condition
- CEP83 c.174-5dup Benign ★ same condition
- CEP83 p.Arg209Ter Pathogenic/Likely pathogenic ★★ same condition
- CEP83 p.Arg215Ter Pathogenic/Likely pathogenic ★★ same condition
- CEP83 p.Arg511Pro Pathogenic/Likely pathogenic ★★ same condition
- CEP83 p.Arg511Ter Pathogenic/Likely pathogenic ★★ same condition
- CEP83 p.Gln81Ter Pathogenic/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/cep83-p-lys65fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown