Is BRD4 p.Pro1171fs (c.3510del) pathogenic?

BRD4 p.Pro1171fs (c.3510del) is classified Likely pathogenic in BRD4 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-03). Associated with syndromic intellectual disability.

What condition is associated with BRD4 p.Pro1171fs (c.3510del)?

BRD4 p.Pro1171fs (c.3510del) is associated with syndromic intellectual disability (ClinVar).

BRD4 p.Pro1171fs

c.3510del · VCV4072313

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

syndromic intellectual disability

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 17 of 20
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.6	GERP 1.2, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: BRD4
Protein: p.Pro1171fs
Coding: c.3510del
MANE Select: NM_001379291
Type: Deletion
Location: chr19:15239458 (GRCh38)
Gene constraint: LOEUF 0.191 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 56.20 · 613 PDB
Residue 1171: the 'c-terminal (ctd) region' region; the 'disordered' region; a UniProt-annotated variant site (found in a patient with a neurodevelopmental syndrome; likely pathogenic)

Full BRD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

syndromic intellectual disability — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BRD4 p.Gln973_Gln989del Uncertain significance ★★ same condition
BRD4 p.Glu1225fs Likely pathogenic ★ same condition
BRD4 p.Gln934_Gln936del Uncertain significance ★★ same type
BRD4 p.Gln1105fs Likely pathogenic ★ same type
BRD4 p.His77del Likely pathogenic ★ same type
BRD4 p.Lys1181fs Pathogenic ★ same type
BRD4 p.Met132fs Likely pathogenic ★ same type
BRD4 p.Pro237fs Likely pathogenic ★ 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-pro1171fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown