DOCK1 p.Arg1088Ter
c.3262A>T · rs987430227 · VCV2688963
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 32 of 52 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.1 | GERP -1.8, phastCons 1 |
| Overall | ||
| CADD | 38.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
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
- DOCK1
- Protein
- p.Arg1088Ter
- Coding
- c.3262A>T
- MANE Select
- NM_001290223
- dbSNP
- rs987430227
- Type
- single nucleotide variant
- Location
- chr10:127354706 (GRCh38)
- Gene constraint
- LOEUF 0.637 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.63 · 1 PDB
Similar variants
- DOCK1 p.Pro1783Ser Uncertain significance ★★ ⚠ same type
- DOCK1 p.Ala1185Thr Uncertain significance ★ ⚠ same type
- DOCK1 p.Ala151Thr Uncertain significance ★ ⚠ same type
- DOCK1 p.Ala1578Ser Uncertain significance ★ ⚠ same type
- DOCK1 p.Ala1590Gly Uncertain significance ★ ⚠ same type
- DOCK1 p.Ala1620Val Uncertain significance ★ ⚠ same type
- DOCK1 p.Ala1689Ser Uncertain significance ★ ⚠ same type
- DOCK1 p.Ala280Thr Uncertain significance ★ ⚠ same type
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/dock1-p-arg1088ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown