Is DOCK8 p.Phe485= (c.1455C>T) pathogenic?

DOCK8 p.Phe485= (c.1455C>T) is classified Likely benign in DOCK8 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2023-01-17). Absent from gnomAD v4.1; Associated with DOCK8-related disorder.

What condition is associated with DOCK8 p.Phe485= (c.1455C>T)?

DOCK8 p.Phe485= (c.1455C>T) is associated with DOCK8-related disorder (ClinVar).

How common is DOCK8 p.Phe485= (c.1455C>T) in the general population?

DOCK8 p.Phe485= (c.1455C>T) is absent from gnomAD v4.1 (gnomAD).

DOCK8 p.Phe485=

c.1455C>T · rs1243649740 · VCV3045865

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

DOCK8-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 0.55	GERP 0.53, phastCons 1
Overall
CADD	11.71	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: DOCK8
Protein: p.Phe485=
Coding: c.1455C>T
MANE Select: NM_203447
dbSNP: rs1243649740
Type: single nucleotide variant
Location: chr9:339038 (GRCh38)
Gene constraint: LOEUF 0.622 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 75.17

Full DOCK8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DOCK8-related disorder

Similar variants

DOCK8 p.Phe485Leu Uncertain significance ★ ⚠ same residue
DOCK8 p.Phe485Val Uncertain significance ★ ⚠ same residue
DOCK8 c.528+1G>A Likely pathogenic ★★ same condition
DOCK8 p.Arg1796Ter Pathogenic ★★ same condition
DOCK8 p.Arg1406Gln Uncertain significance ★★ ⚠ same condition
DOCK8 c.4154-1G>C Likely pathogenic ★ same condition
DOCK8 c.54-1G>T Conflicting classifications of pathogenicity ★ same condition
DOCK8 c.5580+3A>G Conflicting classifications of pathogenicity ★ 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/dock8-p-phe485 (accessed [today's date]).

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