Is DOCK11 p.Ser1793fs (c.5377_5378del) pathogenic?

DOCK11 p.Ser1793fs (c.53775378del) is classified Likely pathogenic in DOCK11 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-01-23). Associated with autoinflammatory disease, multisystem, with immune dysregulation, X-linked.

What condition is associated with DOCK11 p.Ser1793fs (c.5377_5378del)?

DOCK11 p.Ser1793fs (c.5377_5378del) is associated with autoinflammatory disease, multisystem, with immune dysregulation, X-linked (ClinVar).

DOCK11 p.Ser1793fs

c.5377_5378del · VCV4819041

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

autoinflammatory disease, multisystem, with immune dysregulation, X-linked

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 48 of 53
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.27	GERP -3.9, phastCons 0.98

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

Variant & gene context

Gene: DOCK11
Protein: p.Ser1793fs
Coding: c.5377_5378del
MANE Select: NM_144658
Type: Microsatellite
Location: chrX:118676651 (GRCh38)
Structure: AlphaFold pLDDT 79.65
Residue 1793: the docker domain

Full DOCK11 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

autoinflammatory disease, multisystem, with immune dysregulation, X-linked — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DOCK11 p.Arg1885Cys Likely pathogenic ★ ⚠ same condition
DOCK11 p.Glu26Ter Pathogenic ★ same condition
DOCK11 p.Trp1707Ser Pathogenic ★ ⚠ same condition
DOCK11 p.Arg1357Ter Uncertain significance ★ same condition
DOCK11 p.Gln463Arg Uncertain significance ★ ⚠ same condition
DOCK11 p.Ile1833Val Uncertain significance ★ same condition
DOCK11 p.Ile899Thr Uncertain significance ★ ⚠ same condition
DOCK11 p.Leu1340Pro 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/dock11-p-ser1793fs (accessed [today's date]).

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