UNG p.Phe117fs
c.348del · VCV3653806
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
hyper-IgM syndrome type 5
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 7 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP 3.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- UNG
- Protein
- p.Phe117fs
- Coding
- c.348del
- MANE Select
- NM_080911
- Type
- Deletion
- Location
- chr12:109099197 (GRCh38)
- Gene constraint
- LOEUF 1.22 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.52 · 24 PDB
- Residue 117
- an α-helix
Similar variants
- UNG p.Gln55fs Pathogenic ★★ same condition
- UNG p.Pro131fs Pathogenic/Likely pathogenic ★★ same condition
- UNG p.Glu228fs Pathogenic ★ same condition
- UNG p.Ile143fs Likely pathogenic ★ same condition
- UNG p.Ile190fs Pathogenic ★ same condition
- UNG p.Lys184fs Likely pathogenic ★ same condition
- UNG p.Ser14fs Pathogenic ★ same condition
- UNG p.Ser97_Trp98insTer 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/ung-p-phe117fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown