Is DOCK6 p.Cys1061fs (c.3180del) pathogenic?

DOCK6 p.Cys1061fs (c.3180del) is classified Pathogenic/Likely pathogenic in DOCK6 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2023-07-11). Absent from gnomAD v4.1; Associated with Adams-Oliver syndrome 2.

What condition is associated with DOCK6 p.Cys1061fs (c.3180del)?

DOCK6 p.Cys1061fs (c.3180del) is associated with Adams-Oliver syndrome 2 (ClinVar).

How common is DOCK6 p.Cys1061fs (c.3180del) in the general population?

DOCK6 p.Cys1061fs (c.3180del) is absent from gnomAD v4.1 (gnomAD).

DOCK6 p.Cys1061fs

c.3180del · rs2513039217 · VCV2445975

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,588,108)

Conditions

Adams-Oliver syndrome 2

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 26 of 48
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.3	GERP 2.6, phastCons 1

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

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,588,108). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DOCK6
Protein: p.Cys1061fs
Coding: c.3180del
MANE Select: NM_020812
dbSNP: rs2513039217
Type: Deletion
Location: chr19:11222795 (GRCh38)
Gene constraint: LOEUF 0.87 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.78 · 7 PDB

Full DOCK6 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Adams-Oliver syndrome 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DOCK6 p.Leu1064fs Pathogenic ★★ same condition
DOCK6 p.Ser1249fs Pathogenic/Likely pathogenic ★★ same condition
DOCK6 p.Thr455fs Pathogenic/Likely pathogenic ★★ same condition
DOCK6 p.Asp1316_Met1317insTer Pathogenic ★ same condition
DOCK6 p.Asp427fs Pathogenic ★ same condition
DOCK6 p.Gln434fs Pathogenic ★ same condition
DOCK6 p.Glu1609fs Pathogenic ★ same condition
DOCK6 p.Glu1688fs Likely pathogenic ★ 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/dock6-p-cys1061fs (accessed [today's date]).

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