BRD4 p.Val465fs
c.1393_1420delinsCAA · VCV3482296
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Inborn genetic diseases
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 8 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.9 | GERP 2.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BRD4
- Protein
- p.Val465fs
- Coding
- c.1393_1420delinsCAA
- MANE Select
- NM_001379291
- Type
- Indel
- Location
- chr19:15257095 (GRCh38)
- Gene constraint
- LOEUF 0.191 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 56.20 · 613 PDB
- Residue 465
- a UniProt-annotated variant site (found in a patient with a neurodevelopmental syndrome; likely pathogenic); the 'disordered' region
Similar variants
- BRD4 p.Ala220Thr Uncertain significance ★★ ⚠ same condition
- BRD4 p.Ala409Thr Uncertain significance ★★ ⚠ same condition
- BRD4 p.Ala565Val Uncertain significance ★★ ⚠ same condition
- BRD4 p.Asp497Gly Uncertain significance ★★ ⚠ same condition
- BRD4 p.Gln32Arg Uncertain significance ★★ ⚠ same condition
- BRD4 p.Glu715Lys Uncertain significance ★★ ⚠ same condition
- BRD4 p.Glu718Gln Uncertain significance ★★ ⚠ same condition
- BRD4 p.Gly6Ala Uncertain significance ★★ ⚠ same condition
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-val465fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown