BRD1 p.Arg1176=
c.3528C>T · rs140537265 · VCV746333
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0813%, afr)
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 -8.1 | GERP -4.9 |
| Overall | ||
| CADD | 0.809 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0813%
African / African-American · 61/75,070 alleles
Filtering AF
0.0649%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.059%
Overall
0.00558%
90/1,614,126 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0813% | 1,231 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0203% | 4,934 |
| Middle Eastern | 0.0165% | 6,056 |
| Admixed American | 0.0117% | 8,575 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,502 |
| South Asian | 0.0022% | 45,537 |
| European (non-Finnish) | 0.000678% | 147,499 |
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
- BRD1
- Protein
- p.Arg1176=
- Coding
- c.3528C>T
- MANE Select
- NM_001304808
- dbSNP
- rs140537265
- Type
- single nucleotide variant
- Location
- chr22:49774275 (GRCh38)
- Gene constraint
- LOEUF 0.337 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 72.54 · 318 PDB
Similar variants
- BRD1 c.1657-4C>T Likely benign ★★ same type
- BRD1 p.Ala1053= Benign ★★ same type
- BRD1 p.Ala730Thr Benign ★★ same type
- BRD1 p.Arg1020= Benign ★★ same type
- BRD1 p.Gly620= Likely benign ★★ same type
- BRD1 p.Gly776Arg Benign ★★ ⚠ same type
- BRD1 p.Phe193= Benign ★★ same type
- BRD1 p.Pro111= Benign ★★ 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/brd1-p-arg1176 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown