DBR1 p.His361=
c.1083T>C · rs373179901 · VCV2146494
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.056%, sas)
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 0.44 | phastCons 0.71 |
| Overall | ||
| CADD | 5.046 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.056%
South Asian · 51/91,084 alleles
Filtering AF
0.0437%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0394%
Overall
0.00366%
59/1,614,046 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.056% | 1,786 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,498 |
| African / African-American | 0.004% | 24,977 |
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.His361=
- Coding
- c.1083T>C
- MANE Select
- NM_016216
- dbSNP
- rs373179901
- Type
- single nucleotide variant
- Location
- chr3:138162441 (GRCh38)
- Gene constraint
- LOEUF 0.841 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.04
- Residue 361
- 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-his361 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown