UNC79 p.Pro908fs
c.2721_2724del · VCV3367859
Uncertain significance
Single submitter
Classification
Uncertain significance
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-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 10 | GERP 1.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- UNC79
- Protein
- p.Pro908fs
- Coding
- c.2721_2724del
- MANE Select
- NM_001395159
- Type
- Deletion
- Location
- chr14:93582262 (GRCh38)
- Gene constraint
- LOEUF 0.168 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 63.95 · 3 PDB
- Residue 908
- the 'disordered' region
Similar variants
- UNC79 c.4107+1del Likely pathogenic ★ same type
- UNC79 p.Asp2363fs Likely pathogenic ★ same type
- UNC79 p.Glu627fs Pathogenic ★ same type
- UNC79 p.Lys2255fs Likely pathogenic ★ same type
- UNC79 c.1947-19_1947-5del Uncertain significance ★ same type
- UNC79 p.Asn2212fs Uncertain significance ★ same type
- UNC79 p.His757_Phe764del Uncertain significance ★ same type
- UNC79 p.Leu83fs 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/unc79-p-pro908fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown