Is RECQL4 p.Phe404Ser (c.1211_1212delinsCT) pathogenic?

RECQL4 p.Phe404Ser (c.12111212delinsCT) is classified Uncertain significance in RECQL4 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-11-07). No gnomAD frequency available for this variant; Associated with Baller-Gerold syndrome.

What condition is associated with RECQL4 p.Phe404Ser (c.1211_1212delinsCT)?

RECQL4 p.Phe404Ser (c.1211_1212delinsCT) is associated with Baller-Gerold syndrome (ClinVar).

How common is RECQL4 p.Phe404Ser (c.1211_1212delinsCT) in the general population?

RECQL4 p.Phe404Ser (c.1211_1212delinsCT) is no gnomAD frequency available for this variant (gnomAD).

RECQL4 p.Phe404Ser

c.1211_1212delinsCT · rs2130712707 · VCV1487494

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.3	GERP -3.6, phastCons 1
Regional constraint	o/e 1.39	unconstrained · MANE · 6,350 bp · p 1.8e-56 · regional, not allelic

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.Phe404Ser
Coding: c.1211_1212delinsCT
MANE Select: NM_004260
dbSNP: rs2130712707
Type: Indel
Location: chr8:144515810 (GRCh38)
Gene constraint: LOEUF 1.519 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 68.32 · 2 PDB

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.Phe404fs Pathogenic ★ same residue
RECQL4 p.Phe404Leu Uncertain significance ★ same residue
RECQL4 p.Phe404= Likely benign ★ same residue
RECQL4 c.3393+61_3461delinsAG Likely pathogenic ★ same condition
RECQL4 p.Arg1005Ter Pathogenic ★ same condition
RECQL4 p.Cys525fs Pathogenic ★ same condition
RECQL4 p.Ser180delinsThrProTer Pathogenic ★ same condition
RECQL4 c.1258+5_1258+6delinsAT Uncertain significance ★ 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-phe404ser (accessed [today's date]).

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