DBR1 p.Thr367=
c.1101A>T · rs3732839 · VCV2115210
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 81.1%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.1 | |
| Overall | ||
| CADD | 0.693 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
81.1%
African / African-American · 60,743/74,944 alleles
Filtering AF
80.5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 80.3%
Overall
69.5%
1,121,594/1,613,782 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 81.1% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 70.1% | 1 |
| European (non-Finnish) | 69.9% | 1 |
| Remaining individualsnot grpmax-eligible | 69.1% | 1 |
| Admixed American | 67.1% | 1 |
| Finnishnot grpmax-eligible | 66.9% | 1 |
| Middle Eastern | 66.8% | 1 |
| South Asian | 65.2% | 2 |
| East Asian | 56.4% | 2 |
| Amishnot grpmax-eligible | 47.8% | 2 |
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
- DBR1
- Protein
- p.Thr367=
- Coding
- c.1101A>T
- MANE Select
- NM_016216
- dbSNP
- rs3732839
- Type
- single nucleotide variant
- Location
- chr3:138162423 (GRCh38)
- Gene constraint
- LOEUF 0.841 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.04
- Residue 367
- a UniProt-annotated variant site (in iiae11; loss of protein expression)
Similar variants
- DBR1 c.489+5G>A Uncertain significance ★★ same type
- DBR1 p.Ala233Thr Uncertain significance ★★ ⚠ same type
- DBR1 p.Ala443Thr Uncertain significance ★★ ⚠ same type
- DBR1 p.Ala458Asp Uncertain significance ★★ ⚠ same type
- DBR1 p.Arg197Gln Uncertain significance ★★ ⚠ same type
- DBR1 p.Arg197Ter Uncertain significance ★★ same type
- DBR1 p.Arg527Ser Uncertain significance ★★ ⚠ same type
- DBR1 p.Asn405His Uncertain significance ★★ ⚠ 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/dbr1-p-thr367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown