BRD1 p.Gly771=
c.2313C>T · rs140113662 · VCV784425
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.526%, 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 12 | GERP 1.3, phastCons 1 |
| Overall | ||
| CADD | 7.531 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.526%
African / African-American · 395/75,082 alleles
Filtering AF
0.483%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.466%
Overall
0.0277%
447/1,614,182 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.526% | 190 |
| Middle Eastern | 0.099% | 1,010 |
| Remaining individualsnot grpmax-eligible | 0.04% | 2,500 |
| Admixed American | 0.0283% | 3,531 |
| South Asian | 0.00439% | 22,773 |
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.Gly771=
- Coding
- c.2313C>T
- MANE Select
- NM_001304808
- dbSNP
- rs140113662
- Type
- single nucleotide variant
- Location
- chr22:49794080 (GRCh38)
- Gene constraint
- LOEUF 0.337 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 72.54 · 318 PDB
- Residue 771
- the 'disordered' region
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-gly771 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown