Is RECQL4 p.Pro905= (c.2715A>G) pathogenic?

RECQL4 p.Pro905= (c.2715A>G) is classified Likely benign in RECQL4 (ClinVar, Single submitter, 1 submitter; last evaluated 2017-12-12). Very rare (popmax 8.54e-05%, nfe); Associated with Baller-Gerold syndrome.

What condition is associated with RECQL4 p.Pro905= (c.2715A>G)?

RECQL4 p.Pro905= (c.2715A>G) is associated with Baller-Gerold syndrome (ClinVar).

How common is RECQL4 p.Pro905= (c.2715A>G) in the general population?

RECQL4 p.Pro905= (c.2715A>G) is very rare (popmax 8.54e-05%, nfe) (gnomAD).

RECQL4 p.Pro905=

c.2715A>G · rs1463979799 · VCV529078

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 8.54e-05%, nfe)

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 -8.7	GERP -3.5
Overall
CADD	0.089	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 8.54e-05% European (non-Finnish) · 1/1,171,170 alleles

Overall 6.27e-05% 1/1,595,418 alleles · very rare exomes 1/1,443,098 · genomes 0/152,320 · 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.Pro905=
Coding: c.2715A>G
MANE Select: NM_004260
dbSNP: rs1463979799
Type: single nucleotide variant
Location: chr8:144512887 (GRCh38)
Gene constraint: LOEUF 1.519 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 68.32 · 2 PDB
Residue 905: a β-strand; 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.Pro905Ala Uncertain significance ★★ ⚠ same residue
RECQL4 p.Pro905Leu Uncertain significance ★★ ⚠ same residue
RECQL4 p.Pro905Ser Uncertain significance ★★ ⚠ same residue
RECQL4 p.Pro905Thr Uncertain significance ★ ⚠ same residue
RECQL4 p.Pro905fs Pathogenic ★ same residue
RECQL4 p.Pro905Gln Uncertain significance ★ 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-pro905 (accessed [today's date]).

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