Is DOCK2 p.Arg1064= (c.3192G>T) pathogenic?

DOCK2 p.Arg1064= (c.3192G>T) is classified Benign in DOCK2 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-02-02). Low-frequency (popmax 2.66%, eas); Associated with DOCK2 deficiency.

What condition is associated with DOCK2 p.Arg1064= (c.3192G>T)?

DOCK2 p.Arg1064= (c.3192G>T) is associated with DOCK2 deficiency (ClinVar).

How common is DOCK2 p.Arg1064= (c.3192G>T) in the general population?

DOCK2 p.Arg1064= (c.3192G>T) is low-frequency (popmax 2.66%, eas) (gnomAD).

DOCK2 p.Arg1064=

Q: How is Combined immunodeficiency due to DOCK2 deficiency inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

c.3192G>T · rs58980222 · VCV542617

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

low-frequency (popmax 2.66%, eas)

Conditions

DOCK2 deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.3	GERP -3.5, phastCons 1
Overall
CADD	6.451	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.66% East Asian · 1,194/44,864 alleles

Filtering AF 2.54% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.49%

Overall 0.171% 2,755/1,614,044 alleles · low-frequency

Ancestry group	Frequency	1 in
East Asiangrpmax	2.66%	38
African / African-American	1.29%	77
South Asian	0.39%	257
Remaining individualsnot grpmax-eligible	0.2%	500
Admixed American	0.127%	790
Middle Eastern	0.0495%	2,021
European (non-Finnish)	0.00263%	38,064

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: DOCK2
Protein: p.Arg1064=
Coding: c.3192G>T
MANE Select: NM_004946
dbSNP: rs58980222
Type: single nucleotide variant
Location: chr5:170008706 (GRCh38)
Gene constraint: LOEUF 0.421 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 80.40 · 6 PDB
Residue 1064: the 'interaction with crkl' region

Full DOCK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DOCK2 deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Combined immunodeficiency due to DOCK2 deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

DOCK2 p.Arg1064Trp Uncertain significance ★★ ⚠ same residue
DOCK2 c.2267+3G>A Uncertain significance ★★ same condition
DOCK2 c.2704-3C>T Uncertain significance ★★ same condition
DOCK2 c.4467+4A>G Uncertain significance ★★ same condition
DOCK2 p.Ala1393Val Uncertain significance ★★ ⚠ same condition
DOCK2 p.Ala1710Val Uncertain significance ★★ ⚠ same condition
DOCK2 p.Ala1765Val Uncertain significance ★★ ⚠ same condition
DOCK2 p.Ala24Pro 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/dock2-p-arg1064 (accessed [today's date]).

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