CTC1 p.Ile528fs
c.1583del · rs1483025723 · VCV2828233
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 9 of 23 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.4 | GERP -0.74, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CTC1
- Protein
- p.Ile528fs
- Coding
- c.1583del
- MANE Select
- NM_025099
- dbSNP
- rs1483025723
- Type
- Deletion
- Location
- chr17:8234783 (GRCh38)
- Gene constraint
- LOEUF 0.776 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 78.01 · 7 PDB
Disease context
dyskeratosis congenita — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Dyskeratosis congenita (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 1 000 000 (Europe)
Similar variants
- CTC1 p.Asp405fs Pathogenic/Likely pathogenic ★★ same condition
- CTC1 p.Glu454fs Pathogenic/Likely pathogenic ★★ same condition
- CTC1 p.Glu557fs Pathogenic/Likely pathogenic ★★ same condition
- CTC1 p.His726fs Pathogenic/Likely pathogenic ★★ same condition
- CTC1 p.Leu1007fs Pathogenic/Likely pathogenic ★★ same condition
- CTC1 p.Pro944fs Pathogenic ★★ same condition
- CTC1 p.Pro999fs Pathogenic/Likely pathogenic ★★ same condition
- CTC1 p.Ser583fs 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/ctc1-p-ile528fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown