BRD4 p.Pro47fs
c.137dup · VCV3342841
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -7.4 | GERP -5.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BRD4
- Protein
- p.Pro47fs
- Coding
- c.137dup
- MANE Select
- NM_001379291
- Type
- Duplication
- Location
- chr19:15272962 (GRCh38)
- Gene constraint
- LOEUF 0.191 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 56.20 · 613 PDB
- Residue 47
- the 'disordered' region; an α-helix
Similar variants
- BRD4 p.Gln256fs Pathogenic/Likely pathogenic ★★ same type
- BRD4 p.Arg1237fs Pathogenic ★ same type
- BRD4 p.Gln910fs Likely pathogenic ★ same type
- BRD4 p.Glu1225fs Likely pathogenic ★ same type
- BRD4 p.Leu958fs Likely pathogenic ★ same type
- BRD4 p.Pro568fs Likely pathogenic ★ same type
- BRD4 p.Val439fs Likely pathogenic ★ same type
- BRD4 p.Ala1308_Thr1309insAla 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-pro47fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown