TG p.Pro392fs
c.1175_1176del · rs2489806092 · VCV2829107
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 9 of 48 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.24 | GERP -2.6 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- TG
- Protein
- p.Pro392fs
- Coding
- c.1175_1176del
- MANE Select
- NM_003235
- dbSNP
- rs2489806092
- Type
- Deletion
- Location
- chr8:132886547 (GRCh38)
- Gene constraint
- LOEUF 0.892 · pLI <0.01 (gnomAD)
Similar variants
- TG p.Lys1837fs Pathogenic ★★ same type
- TG p.Ser450fs Pathogenic ★★ same type
- TG p.Tyr382fs Pathogenic ★★ same type
- TG p.Asp1767del Benign/Likely benign ★★ same type
- TG c.2177-1_2182del Likely pathogenic ★ same type
- TG c.5549-1_5556del Likely pathogenic ★ same type
- TG c.5686+1del Likely pathogenic ★ same type
- TG c.7037-2del 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/tg-p-pro392fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown