TBCD c.2009del
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 9 | GERP 2.5, phastCons 1 |
Population frequency
dbSNP / gnomAD
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
- Coding
- c.2009del
- MANE Select
- NM_005993
- dbSNP
- rs1555649346
- Type
- Deletion
- Location
- chr17:82911757 (GRCh38)
- Gene constraint
- LOEUF 0.763 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.45 · 6 PDB
Similar variants
- TBCD c.1150_1171del Pathogenic/Likely pathogenic ★★ same type
- TBCD c.1272_1318+43del Likely pathogenic ★★ same type
- TBCD p.Glu995fs Likely pathogenic ★★ same type
- TBCD p.Trp705fs Pathogenic/Likely pathogenic ★★ same type
- TBCD c.333+20del Likely benign ★★ same type
- TBCD c.1302_1318+73del Likely pathogenic ★ same type
- TBCD c.435+1del Likely pathogenic ★ same type
- TBCD p.Ala510fs 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-c-2009del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown