DBT c.51+185A>G
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 3.15%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +185 | deep intronic (+185 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.1 | GERP -3.4 |
| Non-coding constraint | Z 0.21 | 1 kb window · o/e 0.98 · regional · uncalibrated |
| Overall | ||
| CADD | 4.305 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.15%
African / African-American · 1,291/40,944 alleles
Filtering AF
3.01%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.95%
Overall
0.883%
1,333/150,920 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.15% | 32 |
| Remaining individualsnot grpmax-eligible | 0.335% | 298 |
| Admixed American | 0.204% | 489 |
| European (non-Finnish) | 0.0059% | 16,941 |
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.51+185A>G
- MANE Select
- NM_001918
- dbSNP
- rs3131838
- Type
- single nucleotide variant
- Location
- chr1:100249585 (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.1018-550A>G Pathogenic/Likely pathogenic ★★ same type
- DBT c.1281+1G>A Pathogenic/Likely pathogenic ★★ same type
- DBT c.1281+1G>T Pathogenic/Likely pathogenic ★★ same type
- DBT c.51+1G>T Pathogenic/Likely pathogenic ★★ same type
- DBT c.52-1G>A Pathogenic/Likely pathogenic ★★ same type
- DBT c.773-2A>G Pathogenic ★★ same type
- DBT p.Arg169Ter Pathogenic/Likely pathogenic ★★ same type
- DBT p.Arg291Ter 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-51-plus-185a-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown