TBCD p.Trp705fs
c.2115del · VCV4779466
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
TBCD-related disorder
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 25 of 39 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.2 | GERP 0.49, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TBCD
- Protein
- p.Trp705fs
- Coding
- c.2115del
- MANE Select
- NM_005993
- Type
- Deletion
- Location
- chr17:82921513 (GRCh38)
- Gene constraint
- LOEUF 0.763 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.45 · 6 PDB
Disease context
TBCD-related disorder
Similar variants
- TBCD c.1150_1171del Pathogenic/Likely pathogenic ★★ same condition
- TBCD c.1272_1318+43del Likely pathogenic ★★ same condition
- TBCD p.Arg113Ter Pathogenic/Likely pathogenic ★★ same condition
- TBCD p.His77Arg Pathogenic/Likely pathogenic ★★ ⚠ same condition
- TBCD p.Ala1093Thr Uncertain significance ★★ ⚠ same condition
- TBCD p.Leu292Val Conflicting classifications of pathogenicity ★ ⚠ same condition
- TBCD p.Pro967Arg Uncertain significance ★ ⚠ same condition
- ZNF750 p.Arg158Gln 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/tbcd-p-trp705fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown