Is RECQL4 p.Arg384= (c.1152G>C) pathogenic?

RECQL4 p.Arg384= (c.1152G>C) is classified Likely benign in RECQL4 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-04-22). Absent from gnomAD v4.1; Associated with Baller-Gerold syndrome.

What condition is associated with RECQL4 p.Arg384= (c.1152G>C)?

RECQL4 p.Arg384= (c.1152G>C) is associated with Baller-Gerold syndrome (ClinVar).

How common is RECQL4 p.Arg384= (c.1152G>C) in the general population?

RECQL4 p.Arg384= (c.1152G>C) is absent from gnomAD v4.1 (gnomAD).

RECQL4 p.Arg384=

c.1152G>C · rs1586819812 · VCV2858173

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Baller-Gerold syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · C>A here scores Δ0.35 · evaluated, not missing
Constraint at this position
Conservation	phyloP -0.73	GERP -3.6
Overall
CADD	2.257	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: RECQL4
Protein: p.Arg384=
Coding: c.1152G>C
MANE Select: NM_004260
dbSNP: rs1586819812
Type: single nucleotide variant
Location: chr8:144515870 (GRCh38)
Gene constraint: LOEUF 1.519 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 68.32 · 2 PDB

Full RECQL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Baller-Gerold syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

RECQL4 p.Arg384Trp Uncertain significance ★★ ⚠ same residue
RECQL4 p.Arg384Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
RECQL4 p.Arg384Gly Uncertain significance ★ ⚠ same residue
RECQL4 p.Arg384Leu Uncertain significance ★ ⚠ same residue
RECQL4 p.Arg384Pro Uncertain significance ★ ⚠ same residue
RECQL4 c.1132-1G>A Likely pathogenic ★★ same condition
RECQL4 c.1259-1G>A Pathogenic/Likely pathogenic ★★ same condition
RECQL4 c.1391-1G>A Pathogenic ★★ 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/recql4-p-arg384 (accessed [today's date]).

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