Is RECQL4 p.Pro792fs (c.2374_2375insT) pathogenic?

RECQL4 p.Pro792fs (c.23742375insT) is classified Conflicting classifications of pathogenicity in RECQL4 (ClinVar, Conflicting submitters, 2 submitters; last evaluated 2025-04-09). No gnomAD frequency available for this variant; Associated with Baller-Gerold syndrome.

What condition is associated with RECQL4 p.Pro792fs (c.2374_2375insT)?

RECQL4 p.Pro792fs (c.2374_2375insT) is associated with Baller-Gerold syndrome (ClinVar).

How common is RECQL4 p.Pro792fs (c.2374_2375insT) in the general population?

RECQL4 p.Pro792fs (c.2374_2375insT) is no gnomAD frequency available for this variant (gnomAD).

RECQL4 p.Pro792fs

c.2374_2375insT · rs2130677764 · VCV1073655

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 2 submitters

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 14 of 21
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.9, phastCons 1

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.Pro792fs
Coding: c.2374_2375insT
MANE Select: NM_004260
dbSNP: rs2130677764
Type: Insertion
Location: chr8:144513306 (GRCh38)
Gene constraint: LOEUF 1.519 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 68.32 · 2 PDB
Residue 792: the helicase c-terminal domain; 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.Pro792= Likely benign ★★ same residue
RECQL4 p.Pro792Leu Uncertain significance ★ same residue
RECQL4 p.Pro792Ser Uncertain significance ★ same residue
RECQL4 p.Val786_Leu787insThr Uncertain significance ★★ same condition
RECQL4 p.Ala226fs Pathogenic ★ same condition
RECQL4 p.Arg1072fs Pathogenic ★ same condition
RECQL4 p.Asp1093fs Pathogenic ★ same condition
RECQL4 p.Gln408fs 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-pro792fs (accessed [today's date]).

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