Is BRD4 p.His77del (c.231_233del) pathogenic?

BRD4 p.His77del (c.231233del) is classified Likely pathogenic in BRD4 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-05-28). Absent from gnomAD; Associated with Short stature.

What condition is associated with BRD4 p.His77del (c.231_233del)?

BRD4 p.His77del (c.231_233del) is associated with Short stature (ClinVar).

How common is BRD4 p.His77del (c.231_233del) in the general population?

BRD4 p.His77del (c.231_233del) is absent from gnomAD (gnomAD).

BRD4 p.His77del

c.231_233del · rs1599473950 · VCV801419

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Short stature

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 2.2	GERP -0.64, phastCons 1

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.His77del
Coding: c.231_233del
MANE Select: NM_001379291
dbSNP: rs1599473950
Type: Deletion
Location: chr19:15272867 (GRCh38)
Gene constraint: LOEUF 0.191 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 56.20 · 613 PDB
Residue 77: the bromo 1 domain

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

Disease context

Short stature — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BRD4 p.Ser619Ile Likely pathogenic same condition
BRD4 p.Gln934_Gln936del Uncertain significance ★★ same type
BRD4 p.Gln973_Gln989del Uncertain significance ★★ same type
BRD4 p.Gln1105fs Likely pathogenic ★ same type
BRD4 p.Lys1181fs Pathogenic ★ same type
BRD4 p.Met132fs Likely pathogenic ★ same type
BRD4 p.Pro1171fs 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-his77del (accessed [today's date]).

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