CHEK2 p.Ile285=
c.855C>T · rs756692505 · VCV1608822
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,558,956)
Conditions
2
hereditary neoplastic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| REVEL | 0.292 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.30 | acceptor loss · deltas |
| Pangolin | Δ0.21 | loss · gain 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 5.1 | GERP 0.52, phastCons 1 |
| Overall | ||
| CADD | 6.572 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,558,956). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CHEK2
- Protein
- p.Ile285=
- Coding
- c.855C>T
- MANE Select
- NM_007194
- dbSNP
- rs756692505
- Type
- single nucleotide variant
- Location
- chr22:28703558 (GRCh38)
- Gene constraint
- LOEUF 1.399 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.64 · 38 PDB
- Residue 285
- the protein kinase domain
Similar variants
- CHEK2 p.Ile285Met Uncertain significance ★★ same residue
- CHEK2 p.Ile285Val Uncertain significance ★★ ⚠ same residue
- CHEK2 p.Ile285Leu Uncertain significance ★ ⚠ same residue
- CHEK2 p.Ile285Phe Uncertain significance ★ ⚠ same residue
- CHEK2 c.1008+1G>A Likely pathogenic ★★ same condition
- CHEK2 c.1008+1G>T Likely pathogenic ★★ same condition
- CHEK2 c.1008+2T>A Likely pathogenic ★★ same condition
- CHEK2 c.1008+2T>G Likely pathogenic ★★ same condition
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/chek2-p-ile285 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown