BRD4 p.Pro955=
c.2865A>C · rs775889378 · VCV1294591
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 14.7%, sas) — 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 -16 | GERP -1.3 |
| Overall | ||
| CADD | 0.801 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
14.7%
South Asian · 1,103/7,492 alleles
Filtering AF
14%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 13.7%
Overall
6.37%
7,199/113,016 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 14.7% | 7 |
| European (non-Finnish) | 6.45% | 16 |
| Remaining individualsnot grpmax-eligible | 6.42% | 16 |
| Ashkenazi Jewishnot grpmax-eligible | 5.71% | 18 |
| Middle Eastern | 5.59% | 18 |
| Amishnot grpmax-eligible | 5.13% | 19 |
| Finnishnot grpmax-eligible | 5.13% | 20 |
| Admixed American | 4.92% | 20 |
| African / African-American | 3.72% | 27 |
| East Asian | 2.25% | 45 |
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
- BRD4
- Protein
- p.Pro955=
- Coding
- c.2865A>C
- MANE Select
- NM_001379291
- dbSNP
- rs775889378
- Type
- single nucleotide variant
- Location
- chr19:15243204 (GRCh38)
- Gene constraint
- LOEUF 0.191 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 56.20 · 613 PDB
- Residue 955
- the 'disordered' region; a UniProt-annotated variant site (found in a patient with a neurodevelopmental syndrome; likely pathogenic)
Similar variants
- BRD4 p.Pro955Gln Uncertain significance ★ ⚠ same residue
- BRD4 p.Pro955_Pro957del Uncertain significance ★ same residue
- BRD4 p.Tyr430Cys Likely pathogenic ★★ same type
- BRD4 p.Ala220Thr Uncertain significance ★★ ⚠ same type
- BRD4 p.Ala409Thr Uncertain significance ★★ ⚠ same type
- BRD4 p.Ala565Val Uncertain significance ★★ ⚠ same type
- BRD4 p.Asp337Asn Uncertain significance ★★ ⚠ same type
- BRD4 p.Asp497Gly 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/brd4-p-pro955 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown