Is RECQL4 p.Pro90fs (c.267_268del) pathogenic?

RECQL4 p.Pro90fs (c.267268del) is classified Pathogenic in RECQL4 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-06-25). No gnomAD frequency available for this variant; Associated with Baller-Gerold syndrome.

What condition is associated with RECQL4 p.Pro90fs (c.267_268del)?

RECQL4 p.Pro90fs (c.267_268del) is associated with Baller-Gerold syndrome (ClinVar).

How common is RECQL4 p.Pro90fs (c.267_268del) in the general population?

RECQL4 p.Pro90fs (c.267_268del) is no gnomAD frequency available for this variant (gnomAD).

RECQL4 p.Pro90fs

c.267_268del · rs1302751005 · VCV1914015

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Baller-Gerold syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 4 of 21
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.7	GERP -0.74, phastCons 0.033

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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: RECQL4
Protein: p.Pro90fs
Coding: c.267_268del
MANE Select: NM_004260
dbSNP: rs1302751005
Type: Deletion
Location: chr8:144517136 (GRCh38)
Gene constraint: LOEUF 1.519 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 68.32 · 2 PDB
Residue 90: 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.Pro90= Likely benign ★★ same residue
RECQL4 p.Pro90Leu Uncertain significance ★ ⚠ same residue
RECQL4 c.1131_1131+3del Pathogenic/Likely pathogenic ★★ same condition
RECQL4 c.1390+2del Pathogenic ★★ same condition
RECQL4 c.359_374delGACCAGCCCTGGGCCG Pathogenic/Likely pathogenic ★★ same condition
RECQL4 p.Ala1045fs Pathogenic ★★ same condition
RECQL4 p.Ala291fs Pathogenic/Likely pathogenic ★★ same condition
RECQL4 p.Ala368fs 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-pro90fs (accessed [today's date]).

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