DOCK3 p.Ser172fs
c.514dup · VCV4848912
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
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 7 of 53 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.5 | GERP -0.49, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DOCK3
- Protein
- p.Ser172fs
- Coding
- c.514dup
- MANE Select
- NM_004947
- Type
- Duplication
- Location
- chr3:51075404 (GRCh38)
- Gene constraint
- LOEUF 0.298 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 75.52
- Residue 172
- a UniProt-annotated variant site (in nedidha)
Similar variants
- DOCK3 p.Ser172Pro Uncertain significance ★ ⚠ same residue
- DOCK3 p.Pro1406fs Pathogenic/Likely pathogenic ★★ same condition
- DOCK3 p.Arg392Gln Uncertain significance ★★ ⚠ same condition
- DOCK3 p.Lys1296Arg Uncertain significance ★★ ⚠ same condition
- DOCK3 p.Val148Met Uncertain significance ★★ ⚠ same condition
- DOCK3 p.Val668Met Uncertain significance ★★ ⚠ same condition
- DOCK3 c.1918-3T>C Benign ★★ same condition
- DOCK3 c.1038-2A>G 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/dock3-p-ser172fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown