IGF1 p.Arg69fs
c.205del · VCV3644936
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 2 of 4 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- IGF1
- Protein
- p.Arg69fs
- Coding
- c.205del
- MANE Select
- NM_000618
- Type
- Deletion
- Location
- chr12:102475658 (GRCh38)
- Gene constraint
- LOEUF 0.675 · pLI 0.76 (gnomAD)
- Structure
- AlphaFold pLDDT 59.69 · 32 PDB
- Residue 69
- an α-helix; the 'b' region
Similar variants
- IGF1 p.Arg69= Conflicting classifications of pathogenicity ★ same residue
- IGF1 p.Leu35fs Likely pathogenic ★ same type
- IGF1 p.Phe12fs Pathogenic ★ same type
- IGF1 p.Thr77fs Pathogenic ★ same type
- IGF1 p.Gly144fs Uncertain significance ★ same type
- IGF1 c.64-25_64-20del Likely benign ★ same type
- IGF1 c.*263del 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/igf1-p-arg69fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown