RRM2B p.Ile52=
c.156T>C · rs1587186036 · VCV746025
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.33 | GERP -3.8 |
| Overall | ||
| CADD | 6.09 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- RRM2B
- Protein
- p.Ile52=
- Coding
- c.156T>C
- MANE Select
- NM_015713
- dbSNP
- rs1587186036
- Type
- single nucleotide variant
- Location
- chr8:102232197 (GRCh38)
- Gene constraint
- LOEUF 0.688 · pLI 0.27 (gnomAD)
- Structure
- AlphaFold pLDDT 85.73 · 3 PDB
- Residue 52
- an α-helix
Similar variants
- RRM2B c.322-2A>G Pathogenic ★★ same type
- RRM2B c.455+1G>A Likely pathogenic ★★ same type
- RRM2B p.Arg110Cys Likely pathogenic ★★ same type
- RRM2B p.Arg174Ter Pathogenic/Likely pathogenic ★★ same type
- RRM2B p.Arg327Ter Pathogenic ★★ same type
- RRM2B p.Arg41Trp Pathogenic/Likely pathogenic ★★ same type
- RRM2B p.Gly229Val Pathogenic/Likely pathogenic ★★ same type
- RRM2B p.Ile224Ser 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/rrm2b-p-ile52 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown