DBR1 p.Val43=
c.129G>A · rs72973072 · VCV790545
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 6.16%, 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 2.7 | GERP 0.92, phastCons 1 |
| Overall | ||
| CADD | 14.44 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.16%
African / African-American · 4,618/75,004 alleles
Filtering AF
6.01%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.95%
Overall
0.35%
5,639/1,612,748 alleles · common
exomes 2,993/1,460,442 · genomes 2,646/152,306 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 6.16% | 16 |
| Remaining individualsnot grpmax-eligible | 0.434% | 230 |
| Ashkenazi Jewishnot grpmax-eligible | 0.383% | 261 |
| Admixed American | 0.356% | 281 |
| Middle Eastern | 0.149% | 673 |
| European (non-Finnish) | 0.0348% | 2,870 |
| South Asian | 0.00441% | 22,698 |
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.Val43=
- Coding
- c.129G>A
- MANE Select
- NM_016216
- dbSNP
- rs72973072
- Type
- single nucleotide variant
- Location
- chr3:138174667 (GRCh38)
- Gene constraint
- LOEUF 0.841 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.04
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-val43 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown