ORC1 p.Pro80fs
c.237del · rs1647490038 · VCV1034052
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.5 | GERP -1.8 |
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
- ORC1
- Protein
- p.Pro80fs
- Coding
- c.237del
- MANE Select
- NM_014252 · reported on NM_004153
- dbSNP
- rs1647490038
- Type
- Deletion
- Location
- chr1:52397850 (GRCh38)
- Structure
- AlphaFold pLDDT 87.43
Similar variants
- ORC1 p.Gln737fs Likely pathogenic ★ same condition
- ORC1 p.Lys382fs Likely pathogenic ★ same condition
- ORC1 p.Arg105Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ORC1 p.Arg105Trp Likely pathogenic ★★ ⚠ same condition
- ORC1 p.Arg321Ter Pathogenic/Likely pathogenic ★★ same condition
- ORC1 p.Arg720Gln Likely pathogenic ★★ same condition
- ORC1 p.Glu731fs Pathogenic ★★ same condition
- ORC1 p.Ala174Val Uncertain significance ★★ ⚠ 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/orc1-p-pro80fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown