UNC79 p.Ser693Ter
c.2078C>A · rs143259547 · VCV2571821
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/SpliceAI carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a LoF-intolerant gene; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.28 | acceptor loss, 7 bp away · masked 0 · deltas |
| Pangolin | Δ0.26 | loss · gain 0.06 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 2.7, phastCons 1 |
| Overall | ||
| CADD | 40.0 | 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
- UNC79
- Protein
- p.Ser693Ter
- Coding
- c.2078C>A
- MANE Select
- NM_001395159
- dbSNP
- rs143259547
- Type
- single nucleotide variant
- Location
- chr14:93575065 (GRCh38)
- Gene constraint
- LOEUF 0.168 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 63.95 · 3 PDB
- Residue 693
- an α-helix
Similar variants
- UNC79 p.Ser693Leu Uncertain significance ★ same residue
- UNC79 p.Ile1680Thr Uncertain significance ★★ same type
- UNC79 p.Pro2467Arg Uncertain significance ★★ same type
- UNC79 p.Ser1741Cys Uncertain significance ★★ same type
- UNC79 p.Ser706Arg Uncertain significance ★★ same type
- UNC79 p.Thr2409Met Uncertain significance ★★ same type
- UNC79 p.Tyr539Phe Uncertain significance ★★ same type
- UNC79 c.3191-2A>C Likely pathogenic ★ 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-ser693ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown