Is DOCK3 p.Ser847fs (c.2535_2538dup) pathogenic?

DOCK3 p.Ser847fs (c.25352538dup) is classified Likely pathogenic in DOCK3 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-05-03). Associated with DOCK3-related disorder.

What condition is associated with DOCK3 p.Ser847fs (c.2535_2538dup)?

DOCK3 p.Ser847fs (c.2535_2538dup) is associated with DOCK3-related disorder (ClinVar).

DOCK3 p.Ser847fs

c.2535_2538dup · VCV3350497

Likely pathogenic No assertion criteria

Classification

Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

DOCK3-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 24 of 53
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.8	GERP 0.87, phastCons 1

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

Variant & gene context

Gene: DOCK3
Protein: p.Ser847fs
Coding: c.2535_2538dup
MANE Select: NM_004947
Type: Duplication
Location: chr3:51270992 (GRCh38)
Gene constraint: LOEUF 0.298 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 75.52
Residue 847: a UniProt-annotated variant site (in nedidha)

Full DOCK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DOCK3-related disorder

Similar variants

DOCK3 c.1037+1G>A Likely pathogenic ★ same condition
DOCK3 p.Arg362Ter Likely pathogenic ★ same condition
DOCK3 p.Arg1981fs Uncertain significance ★ same condition
DOCK3 p.Gly11_Val12insTer Uncertain significance ★ same condition
DOCK3 c.2548+6T>A Benign same condition
DOCK3 c.3915+10A>G Likely benign same condition
DOCK3 c.5412+10C>T Likely benign same condition
DOCK3 p.Asp1841= Likely benign 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/dock3-p-ser847fs (accessed [today's date]).

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