RTN2 p.Arg91fs
c.271_289del · VCV4687046
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 3 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.8 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- RTN2
- Protein
- p.Arg91fs
- Coding
- c.271_289del
- MANE Select
- NM_005619
- Type
- Deletion
- Location
- chr19:45494796 (GRCh38)
- Gene constraint
- LOEUF 0.748 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 50.99
- Residue 91
- a UniProt-annotated variant site (in hmnr11; likely pathogenic); a UniProt-annotated variant site (in spg12; likely pathogenic); the 'disordered' region
Similar variants
- RTN2 p.Arg91His Uncertain significance ★★ ⚠ same residue
- RTN2 p.Gly309fs Pathogenic/Likely pathogenic ★★ same type
- RTN2 p.Gly57fs Pathogenic/Likely pathogenic ★★ same type
- RTN2 c.1381-12del Benign/Likely benign ★★ same type
- RTN2 p.Leu385fs Likely pathogenic ★ same type
- RTN2 c.818_828del Conflicting classifications of pathogenicity ★ same type
- RTN2 p.Asp408fs Uncertain significance ★ same type
- RTN2 p.Glu158fs Uncertain significance ★ 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/rtn2-p-arg91fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown