TBCD p.Ala735fs
c.2200_2203dup · rs2510686085 · VCV2974962
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 26 of 39 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.73 | GERP -3.3 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- TBCD
- Protein
- p.Ala735fs
- Coding
- c.2200_2203dup
- MANE Select
- NM_005993
- dbSNP
- rs2510686085
- Type
- Duplication
- Location
- chr17:82923669 (GRCh38)
- Gene constraint
- LOEUF 0.763 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.45 · 6 PDB
Similar variants
- TBCD p.Ala735= Likely benign ★ same residue
- TBCD c.435+22dup Benign/Likely benign ★★ same type
- TBCD c.772-3dup Benign ★★ same type
- TBCD p.Ala732fs Pathogenic ★ same type
- TBCD p.His1049fs Pathogenic ★ same type
- TBCD p.Ile1012fs Pathogenic ★ same type
- TBCD p.Leu483fs Pathogenic ★ same type
- TBCD p.Ser408fs Pathogenic ★ 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/tbcd-p-ala735fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown