BRD3 p.His301=
c.903C>T · rs147905022 · VCV744481
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.224%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.3 | GERP -3.7 |
| Overall | ||
| CADD | 5.928 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.224%
African / African-American · 168/75,040 alleles
Filtering AF
0.196%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.186%
Overall
0.0147%
236/1,610,064 alleles · rare
exomes 130/1,457,724 · genomes 106/152,340 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.224% | 447 |
| Remaining individualsnot grpmax-eligible | 0.0368% | 2,714 |
| Admixed American | 0.0167% | 5,991 |
| South Asian | 0.0154% | 6,496 |
| European (non-Finnish) | 0.00178% | 56,143 |
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
- BRD3
- Protein
- p.His301=
- Coding
- c.903C>T
- MANE Select
- NM_007371
- dbSNP
- rs147905022
- Type
- single nucleotide variant
- Location
- chr9:134048266 (GRCh38)
- Gene constraint
- LOEUF 0.396 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 68.65 · 48 PDB
- Residue 301
- the 'disordered' region
Similar variants
- BRD3 p.Thr15= Benign ★★ same type
- BRD3 c.1407+5G>A Uncertain significance ★ same type
- BRD3 p.Ala10Val Uncertain significance ★ ⚠ same type
- BRD3 p.Ala14Val Uncertain significance ★ ⚠ same type
- BRD3 p.Ala161Val Uncertain significance ★ ⚠ same type
- BRD3 p.Ala173Thr Uncertain significance ★ ⚠ same type
- BRD3 p.Ala173Val Uncertain significance ★ ⚠ same type
- BRD3 p.Ala198Val 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/brd3-p-his301 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown