IGF1R p.Pro265=
c.795G>T · rs565401892 · VCV2158107
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.104%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.5 | GERP -4.2 |
| Overall | ||
| CADD | 1.358 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.104%
South Asian · 95/91,084 alleles
Filtering AF
0.0873%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.081%
Overall
0.00607%
98/1,614,062 alleles · rare
exomes 94/1,461,732 · genomes 4/152,330 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.104% | 959 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,837 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- IGF1R
- Protein
- p.Pro265=
- Coding
- c.795G>T
- MANE Select
- NM_000875
- dbSNP
- rs565401892
- Type
- single nucleotide variant
- Location
- chr15:98891479 (GRCh38)
- Gene constraint
- LOEUF 0.393 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 78.54 · 46 PDB
Similar variants
- IGF1R p.Pro265Leu Uncertain significance ★ ⚠ same residue
- IGF1R c.3187-2A>T Likely pathogenic ★★ same type
- IGF1R c.3457+1G>A Pathogenic/Likely pathogenic ★★ same type
- IGF1R c.641-2A>G Pathogenic ★★ same type
- IGF1R p.Arg365Ter Pathogenic/Likely pathogenic ★★ same type
- IGF1R p.Arg753Ter Pathogenic/Likely pathogenic ★★ same type
- IGF1R p.Cys307Ter Pathogenic ★★ same type
- IGF1R p.Gly1152Arg Pathogenic/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/igf1r-p-pro265 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown