DOCK2 p.Ile680fs
c.2037_2041del · VCV4682080
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 21 of 52 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 2.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DOCK2
- Protein
- p.Ile680fs
- Coding
- c.2037_2041del
- MANE Select
- NM_004946
- Type
- Deletion
- Location
- chr5:169717388 (GRCh38)
- Gene constraint
- LOEUF 0.421 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 80.40 · 6 PDB
Similar variants
- DOCK2 c.1843+9del Likely benign ★★ same type
- DOCK2 c.1057del Likely pathogenic ★ same type
- DOCK2 p.Gly616fs Pathogenic ★ same type
- DOCK2 p.His907fs Pathogenic ★ same type
- DOCK2 p.Lys872fs Likely pathogenic ★ same type
- DOCK2 p.Met450fs Pathogenic ★ same type
- DOCK2 c.2031+3_2031+4del Uncertain significance ★ same type
- DOCK2 p.Asn920_Val923del 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/dock2-p-ile680fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown