RIN2 p.Pro308fs
c.921_922insG · VCV3663530
Pathogenic
Single submitter
Classification
Pathogenic
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 9 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.33 | GERP -2.1, phastCons 0.11 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- RIN2
- Protein
- p.Pro308fs
- Coding
- c.921_922insG
- MANE Select
- NM_018993
- Type
- Insertion
- Location
- chr20:19974946 (GRCh38)
- Gene constraint
- LOEUF 0.637 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 64.30
- Residue 308
- the 'disordered' region
Similar variants
- RIN2 p.Pro308Ala Uncertain significance ★★ ⚠ same residue
- RIN2 p.Pro308Arg Uncertain significance ★★ ⚠ same residue
- RIN2 p.Pro308Gln Uncertain significance ★★ ⚠ same residue
- RIN2 p.Pro308Leu Uncertain significance ★★ ⚠ same residue
- RIN2 p.Pro308= Likely benign ★★ same residue
- RIN2 p.Ser306fs Uncertain significance ★ 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/rin2-p-pro308fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown