Is RECQL4 p.Ala67= (c.201G>A) pathogenic?

RECQL4 p.Ala67= (c.201G>A) is classified Likely benign in RECQL4 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-06-08). No allele count reported in gnomAD v4.1 (AN 1,578,238); Associated with Baller-Gerold syndrome.

What condition is associated with RECQL4 p.Ala67= (c.201G>A)?

RECQL4 p.Ala67= (c.201G>A) is associated with Baller-Gerold syndrome (ClinVar).

How common is RECQL4 p.Ala67= (c.201G>A) in the general population?

RECQL4 p.Ala67= (c.201G>A) is no allele count reported in gnomAD v4.1 (AN 1,578,238) (gnomAD).

RECQL4 p.Ala67=

c.201G>A · rs1586833178 · VCV954182

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,578,238)

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	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -0.81	GERP -3
Overall
CADD	5.91	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,578,238). 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: RECQL4
Protein: p.Ala67=
Coding: c.201G>A
MANE Select: NM_004260
dbSNP: rs1586833178
Type: single nucleotide variant
Location: chr8:144517426 (GRCh38)
Gene constraint: LOEUF 1.519 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 68.32 · 2 PDB
Residue 67: the 'disordered' region

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.Ala67Thr Uncertain significance ★★ ⚠ same residue
RECQL4 p.Ala67Gly Uncertain significance ★ ⚠ same residue
RECQL4 p.Ala67Ser Uncertain significance ★ ⚠ same residue
RECQL4 p.Ala67Val Conflicting classifications of pathogenicity ★ ⚠ same residue
RECQL4 p.Ala67fs Pathogenic ★ 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-ala67 (accessed [today's date]).

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