BRD4 p.Pro217del
c.643CCT[2] · rs749338434 · VCV2085295
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00267%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP 1.4, phastCons 0.99 |
| Overall | ||
| CADD | 18.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00267%
African / African-American · 2/74,834 alleles
Filtering AF
0.000444%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000166%
Overall
0.000496%
8/1,613,866 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00267% | 37,417 |
| European (non-Finnish) | 0.000508% | 196,668 |
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.Pro217del
- Coding
- c.643CCT[2]
- MANE Select
- NM_001379291
- dbSNP
- rs749338434
- Type
- Microsatellite
- Location
- chr19:15265552 (GRCh38)
- Gene constraint
- LOEUF 0.191 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 56.20 · 613 PDB
- Residue 217
- the 'disordered' region
Similar variants
- BRD4 p.Glu506del Uncertain significance ★★ same type
- BRD4 c.2212-28GTCT[3] Likely benign ★★ same type
- BRD4 p.Glu1113del Benign ★★ same type
- BRD4 p.Val1110del Likely benign ★★ same type
- BRD4 p.981QP[1] Uncertain significance ★ same type
- BRD4 p.Gln1289_Arg1290insGln Uncertain significance ★ same type
- BRD4 p.Gln1289del Uncertain significance ★ same type
- BRD4 p.Gln1300_Ala1301insGlnGln 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-pro217del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown