CEP295 p.Asp1752=
c.5256T>C · VCV4822695
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.24 | GERP -1.9, phastCons 1 |
| Overall | ||
| CADD | 3.104 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CEP295
- Protein
- p.Asp1752=
- Coding
- c.5256T>C
- MANE Select
- NM_033395
- Type
- single nucleotide variant
- Location
- chr11:93700168 (GRCh38)
- Gene constraint
- LOEUF 0.735 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 44.76
- Residue 1752
- a UniProt-annotated variant site (in sckl11; likely pathogenic)
Similar variants
- CEP295 p.Gln2146His Uncertain significance ★★ ⚠ same type
- CEP295 p.Gln998Arg Uncertain significance ★★ ⚠ same type
- CEP295 p.Thr451Arg Uncertain significance ★★ ⚠ same type
- CEP295 p.Gln1506= Benign ★★ same type
- CEP295 p.Gln1728= Benign ★★ same type
- CEP295 p.Gln80Lys Benign ★★ same type
- CEP295 p.Glu1026Lys Benign ★★ ⚠ same type
- CEP295 p.Glu179Lys Benign ★★ same type
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/cep295-p-asp1752 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown