Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 7 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
pontocerebellar hypoplasia
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 -11 | GERP -3.4 |
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
- TSEN34
- Protein
- p.Pro265=
- Coding
- c.795=
- MANE Select
- NM_001077446
- dbSNP
- rs7595
- Type
- single nucleotide variant
- Location
- chr19:54193224 (GRCh38)
- Gene constraint
- LOEUF 1.159 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.74 · 6 PDB
Similar variants
- TSEN34 p.Pro265Arg Uncertain significance ★ ⚠ same residue
- TSEN34 p.Arg25Cys Uncertain significance ★★ ⚠ same condition
- TSEN34 p.Arg88Cys Uncertain significance ★★ ⚠ same condition
- TSEN34 p.Leu2Pro Uncertain significance ★★ ⚠ same condition
- TSEN34 c.-5+15G>A Likely benign ★★ same condition
- TSEN34 c.*1053G>A Likely benign ★★ same condition
- TSEN34 c.*109A>G Benign/Likely benign ★★ same condition
- TSEN34 c.*1128G>T 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/tsen34-p-pro265 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown