IGF2R p.Ala615=
c.1845G>A · rs8191798 · VCV2657101
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.851%, afr)
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 -11 | GERP -3.4 |
| Overall | ||
| CADD | 0.986 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.851%
African / African-American · 638/74,982 alleles
Filtering AF
0.796%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.774%
Overall
0.043%
693/1,612,508 alleles · rare
exomes 328/1,460,242 · genomes 365/152,266 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.851% | 118 |
| Middle Eastern | 0.033% | 3,029 |
| Remaining individualsnot grpmax-eligible | 0.0272% | 3,672 |
| Admixed American | 0.0234% | 4,277 |
| South Asian | 0.0033% | 30,303 |
| East Asian | 0.00223% | 44,852 |
| Finnishnot grpmax-eligible | 0.00156% | 63,972 |
| European (non-Finnish) | 0.00144% | 69,355 |
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
- IGF2R
- Protein
- p.Ala615=
- Coding
- c.1845G>A
- MANE Select
- NM_000876
- dbSNP
- rs8191798
- Type
- single nucleotide variant
- Location
- chr6:160045824 (GRCh38)
- Gene constraint
- LOEUF 0.421 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 73.48 · 24 PDB
- Residue 615
- an α-helix; the mrh 4 domain
Similar variants
- IGF2R p.Ala615Val Uncertain significance ★ ⚠ same residue
- IGF2R p.Asp2219= Benign/Likely benign ★★ same type
- IGF2R p.Leu817Val Benign ★★ same type
- IGF2R p.Pro2129= Benign/Likely benign ★★ same type
- IGF2R p.His151Tyr Likely pathogenic ★ ⚠ same type
- IGF2R c.289+2T>C Uncertain significance ★ same type
- IGF2R p.Ala1033Pro Uncertain significance ★ ⚠ same type
- IGF2R p.Ala104Thr 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/igf2r-p-ala615 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown