RPL26 p.Phe3=
c.9T>C · VCV4755316
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Diamond-Blackfan anemia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.1 | GERP -0.41, phastCons 1 |
| Overall | ||
| CADD | 13.15 | 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
- RPL26
- Protein
- p.Phe3=
- Coding
- c.9T>C
- MANE Select
- NM_000987
- Type
- single nucleotide variant
- Location
- chr17:8382302 (GRCh38)
- Gene constraint
- LOEUF 0.258 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 92.77 · 186 PDB
- Residue 3
- the 'disordered' region
Disease context
Diamond-Blackfan anemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Diamond-Blackfan anemia (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 1 000 000 (Europe)
Similar variants
- RPL26 p.Arg126His Uncertain significance ★★ ⚠ same condition
- RPL26 c.168+17G>A Benign/Likely benign ★★ same condition
- RPL26 p.Asn43Ser Likely benign ★★ ⚠ same condition
- RPL26 p.Asp114= Likely benign ★★ same condition
- RPL26 p.His100= Likely benign ★★ same condition
- RPL26 p.His24= Likely benign ★★ same condition
- RPL26 p.His96= Likely benign ★★ same condition
- RPL26 p.Leu109= Benign/Likely benign ★★ 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/rpl26-p-phe3 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown