CEP295 p.Glu912=
c.2736A>G · VCV4534723
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00137%, afr)
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 0.17 | GERP -2.9 |
| Overall | ||
| CADD | 0.538 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00137%
African / African-American · 1/73,184 alleles
Overall
0.000143%
2/1,399,512 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00137% | 73,184 |
| European (non-Finnish) | 8.72e-05% | 1,147,026 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CEP295
- Protein
- p.Glu912=
- Coding
- c.2736A>G
- MANE Select
- NM_033395
- Type
- single nucleotide variant
- Location
- chr11:93697648 (GRCh38)
- Gene constraint
- LOEUF 0.735 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 44.76
- Residue 912
- 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-glu912 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown