DBT c.*8554del
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 -1.6 | GERP -0.48 |
| Non-coding constraint | Z 0.93 | 1 kb window · o/e 0.93 · regional · uncalibrated |
| Overall | ||
| CADD | 0.155 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Remaining individualsnot grpmax-eligible | 1.68% | 60 |
| Finnishnot grpmax-eligible | 1.59% | 63 |
| South Asiangrpmax | 1.2% | 83 |
| Admixed American | 1.16% | 86 |
| European (non-Finnish) | 1.08% | 93 |
| Middle Eastern | 0.847% | 118 |
| Ashkenazi Jewishnot grpmax-eligible | 0.64% | 156 |
| African / African-American | 0.513% | 195 |
| East Asian | 0.214% | 467 |
Remaining individuals shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- DBT
- Coding
- c.*8554del
- MANE Select
- NM_001918
- dbSNP
- rs886044938
- Type
- Deletion
- Location
- chr1:100187701 (GRCh38)
- Gene constraint
- LOEUF 1.255 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 78.71 · 5 PDB
Similar variants
- DBT c.434-15_434-4del Pathogenic/Likely pathogenic ★★ same type
- DBT p.Cys26fs Pathogenic ★★ same type
- DBT p.Lys120fs Pathogenic ★★ same type
- DBT p.Phe276fs Pathogenic/Likely pathogenic ★★ same type
- DBT p.Pro238fs Pathogenic ★★ same type
- DBT p.Thr153fs Pathogenic/Likely pathogenic ★★ same type
- DBT p.Thr388_Thr389insTer Likely pathogenic ★★ same type
- DBT p.Thr91fs 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/dbt-c-star-8554del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown