Is RECQL4 p.Pro891= (c.2673A>G) pathogenic?

RECQL4 p.Pro891= (c.2673A>G) is classified Likely benign in RECQL4 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-07-15). Ultra-rare (popmax 0.0121%, afr); Associated with Baller-Gerold syndrome.

What condition is associated with RECQL4 p.Pro891= (c.2673A>G)?

RECQL4 p.Pro891= (c.2673A>G) is associated with Baller-Gerold syndrome (ClinVar).

How common is RECQL4 p.Pro891= (c.2673A>G) in the general population?

RECQL4 p.Pro891= (c.2673A>G) is ultra-rare (popmax 0.0121%, afr) (gnomAD).

RECQL4 p.Pro891=

c.2673A>G · rs751424598 · VCV1081816

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0121%, afr)

Conditions

Baller-Gerold syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.11	GERP -2.9
Overall
CADD	1.475	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0121% African / African-American · 9/74,210 alleles

Filtering AF 0.00629% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00472%

Overall 0.00057% 9/1,578,164 alleles · ultra-rare exomes 3/1,425,928 · genomes 6/152,236 · joint denominator

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: RECQL4
Protein: p.Pro891=
Coding: c.2673A>G
MANE Select: NM_004260
dbSNP: rs751424598
Type: single nucleotide variant
Location: chr8:144512929 (GRCh38)
Gene constraint: LOEUF 1.519 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 68.32 · 2 PDB
Residue 891: a UniProt-annotated variant site (in rts2)

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.Pro891Leu Uncertain significance ★★ ⚠ same residue
RECQL4 p.Pro891Ala Uncertain significance ★ ⚠ same residue
RECQL4 p.Pro891Ser Uncertain significance ★ ⚠ same residue
RECQL4 p.Pro891Thr Uncertain significance ★ ⚠ same residue
RECQL4 p.Pro891Gln Uncertain significance ★ ⚠ same residue
RECQL4 p.Pro891Arg Likely benign ★ same residue
RECQL4 c.1132-1G>A Likely pathogenic ★★ same condition
RECQL4 c.1259-1G>A Pathogenic/Likely 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-pro891 (accessed [today's date]).

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