KDM2B p.Ile1233=
c.3699C>A · rs782054563 · VCV738407
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000763%, nfe)
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 4.5 | GERP 1.2, phastCons 1 |
| Overall | ||
| CADD | 9.629 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000763%
European (non-Finnish) · 9/1,180,004 alleles
Filtering AF
0.000359%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00026%
Overall
0.000616%
9/1,461,796 alleles · very rare
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
- KDM2B
- Protein
- p.Ile1233=
- Coding
- c.3699C>A
- MANE Select
- NM_032590
- dbSNP
- rs782054563
- Type
- single nucleotide variant
- Location
- chr12:121439987 (GRCh38)
- Gene constraint
- LOEUF 0.266 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 68.20 · 4 PDB
- Residue 1233
- an α-helix; a UniProt-annotated variant site (in nedcro; uncertain significance)
Similar variants
- KDM2B p.Arg614Pro Pathogenic/Likely pathogenic ★★ same type
- KDM2B p.Cys616Arg Pathogenic/Likely pathogenic ★★ same type
- KDM2B p.Gly638Asp Pathogenic ★★ same type
- KDM2B p.Arg1124Gln Uncertain significance ★★ ⚠ same type
- KDM2B p.Arg294Gln Uncertain significance ★★ ⚠ same type
- KDM2B p.Arg612Gln Uncertain significance ★★ ⚠ same type
- KDM2B p.Asn742Lys Uncertain significance ★★ ⚠ same type
- KDM2B p.Glu922Lys 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/kdm2b-p-ile1233 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown