REN p.Trp267fs
c.799del · VCV3899970
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
renal tubular dysgenesis
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- REN
- Protein
- p.Trp267fs
- Coding
- c.799del
- MANE Select
- NM_001363642 · reported on NM_000537
- Type
- Deletion
- Location
- chr1:204156696 (GRCh38)
- Structure
- AlphaFold pLDDT 85.00
Similar variants
- REN p.Lys100fs Pathogenic same condition
- REN p.Arg49Ter Pathogenic/Likely pathogenic ★★ same condition
- REN p.Gln85His Uncertain significance ★★ ⚠ same condition
- REN p.Glu89Asp Uncertain significance ★★ ⚠ same condition
- REN p.Gly240Arg Uncertain significance ★★ ⚠ same condition
- REN p.Gly273Arg Uncertain significance ★★ ⚠ same condition
- REN c.373+44C>G Benign ★★ same condition
- REN c.492+17T>G 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/ren-p-trp267fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown