RMND1 p.Ser366fs
c.1094_1095insA · rs2485884567 · VCV1974729
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 10 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.6 | GERP 0.42, phastCons 1 |
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
- RMND1
- Protein
- p.Ser366fs
- Coding
- c.1094_1095insA
- MANE Select
- NM_017909
- dbSNP
- rs2485884567
- Type
- Insertion
- Location
- chr6:151417384 (GRCh38)
- Gene constraint
- LOEUF 0.851 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 70.28
Similar variants
- RMND1 p.Ser366Arg Uncertain significance ★★ ⚠ same residue
- RMND1 c.1003-2_1003-1insATG Conflicting classifications of pathogenicity ★ same type
- RMND1 c.613+330_613+331insG Likely benign ★ 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/rmnd1-p-ser366fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown