Is BRD4 p.Arg1237fs (c.3693_3709dup) pathogenic?

BRD4 p.Arg1237fs (c.36933709dup) is classified Pathogenic in BRD4 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-10-04). No gnomAD frequency available for this variant; Associated with intellectual disability.

What condition is associated with BRD4 p.Arg1237fs (c.3693_3709dup)?

BRD4 p.Arg1237fs (c.3693_3709dup) is associated with intellectual disability (ClinVar).

How common is BRD4 p.Arg1237fs (c.3693_3709dup) in the general population?

BRD4 p.Arg1237fs (c.3693_3709dup) is no gnomAD frequency available for this variant (gnomAD).

BRD4 p.Arg1237fs

c.3693_3709dup · rs2512703983 · VCV1708222

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

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 18 of 20
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.9	GERP 1.3, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: BRD4
Protein: p.Arg1237fs
Coding: c.3693_3709dup
MANE Select: NM_001379291
dbSNP: rs2512703983
Type: Duplication
Location: chr19:15239131 (GRCh38)
Gene constraint: LOEUF 0.191 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 56.20 · 613 PDB
Residue 1237: 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

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

Similar variants

BRD4 p.Gln256fs Pathogenic/Likely 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.Pro47fs 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-arg1237fs (accessed [today's date]).

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