Is DOCK3 p.Asp1841= (c.5523C>T) pathogenic?

DOCK3 p.Asp1841= (c.5523C>T) is classified Likely benign in DOCK3 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-11-12). Rare (popmax 0.12%, amr); Associated with DOCK3-related disorder.

What condition is associated with DOCK3 p.Asp1841= (c.5523C>T)?

DOCK3 p.Asp1841= (c.5523C>T) is associated with DOCK3-related disorder (ClinVar).

How common is DOCK3 p.Asp1841= (c.5523C>T) in the general population?

DOCK3 p.Asp1841= (c.5523C>T) is rare (popmax 0.12%, amr) (gnomAD).

DOCK3 p.Asp1841=

c.5523C>T · rs183651479 · VCV3045070

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.12%, amr)

Conditions

DOCK3-related disorder

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 -0.26	GERP -4.1, phastCons 0.25
Overall
CADD	12.0	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.12% Admixed American · 72/59,994 alleles

Filtering AF 0.0977% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0895%

Overall 0.0188% 304/1,613,688 alleles · rare exomes 252/1,461,388 · genomes 52/152,300 · joint denominator

Ancestry group	Frequency	1 in
Ashkenazi Jewishnot grpmax-eligible	0.334%	299
Admixed Americangrpmax	0.12%	833
Remaining individualsnot grpmax-eligible	0.0352%	2,840
Middle Eastern	0.0165%	6,052
European (non-Finnish)	0.0089%	11,236
South Asian	0.0033%	30,343
African / African-American	0.00267%	37,516

Ashkenazi Jewish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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: DOCK3
Protein: p.Asp1841=
Coding: c.5523C>T
MANE Select: NM_004947
dbSNP: rs183651479
Type: single nucleotide variant
Location: chr3:51380147 (GRCh38)
Gene constraint: LOEUF 0.298 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 75.52
Residue 1841: 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 p.Asp1841Asn Uncertain significance ★ ⚠ same residue
DOCK3 c.1037+1G>A Likely pathogenic ★ same condition
DOCK3 p.Arg362Ter Likely pathogenic ★ 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.Asp676= Likely benign same condition
DOCK3 p.Leu99= 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-asp1841 (accessed [today's date]).

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