BRD1 p.Phe193=
c.579C>T · rs11912787 · VCV1343930
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 18.3%, 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 -2.3 | GERP -5.5 |
| Overall | ||
| CADD | 6.042 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
18.3%
African / African-American · 13,729/75,018 alleles
Filtering AF
18%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 17.9%
Overall
8.05%
129,894/1,613,984 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 18.3% | 5 |
| South Asian | 17.7% | 6 |
| Middle Eastern | 16% | 6 |
| Amishnot grpmax-eligible | 13.8% | 7 |
| Ashkenazi Jewishnot grpmax-eligible | 10.1% | 10 |
| Remaining individualsnot grpmax-eligible | 8.27% | 12 |
| European (non-Finnish) | 7.25% | 14 |
| Admixed American | 4.9% | 20 |
| Finnishnot grpmax-eligible | 3.51% | 28 |
| East Asian | 0.105% | 955 |
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.Phe193=
- Coding
- c.579C>T
- MANE Select
- NM_001304808
- dbSNP
- rs11912787
- Type
- single nucleotide variant
- Location
- chr22:49823739 (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.Pro111= Benign ★★ same type
- BRD1 p.Ser106Thr 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-phe193 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown