TRAPPC12 p.Pro76fs
c.227_228del · VCV3361852
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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TRAPPC12
- Protein
- p.Pro76fs
- Coding
- c.227_228del
- MANE Select
- NM_016030
- Type
- Deletion
- Location
- chr2:3387847 (GRCh38)
- Gene constraint
- LOEUF 1.192 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 68.52
- Residue 76
- the 'disordered' region
Similar variants
- TRAPPC12 p.Glu49fs Likely pathogenic ★★ same type
- TRAPPC12 p.Asp84fs Likely pathogenic ★ same type
- TRAPPC12 p.Gln32fs Pathogenic ★ same type
- TRAPPC12 p.Gly128fs Pathogenic ★ same type
- TRAPPC12 p.Gly241fs Likely pathogenic ★ same type
- TRAPPC12 p.Leu591fs Likely pathogenic ★ same type
- TRAPPC12 p.Leu616fs Likely pathogenic ★ same type
- TRAPPC12 p.Pro19fs 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/trappc12-p-pro76fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown