CHEK2 p.Arg240fs
c.718del · rs2145951649 · VCV1072939
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 6 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP 1.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. 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.Arg240fs
- Coding
- c.718del
- MANE Select
- NM_007194
- dbSNP
- rs2145951649
- Type
- Deletion
- Location
- chr22:28711983 (GRCh38)
- Gene constraint
- LOEUF 1.399 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.64 · 38 PDB
- Residue 240
- a turn; the protein kinase domain
Disease context
hereditary breast carcinoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hereditary breast cancer (Orphanet):
- Inheritance
- Autosomal dominant, Multigenic/multifactorial
- Onset
- Adult, Elderly
Similar variants
- CHEK2 p.Arg240Thr Uncertain significance ★★ ⚠ same residue
- CHEK2 p.Arg240Gly Uncertain significance ★ ⚠ same residue
- CHEK2 p.Arg240= Likely benign ★ same residue
- CHEK2 c.1096-3_1098del Likely pathogenic ★★ same condition
- CHEK2 c.1375+1_1375+2del Likely pathogenic ★★ same condition
- CHEK2 c.1375+1del Likely pathogenic ★★ same condition
- CHEK2 c.1461+1del Likely pathogenic ★★ same condition
- CHEK2 c.1462-2del 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-arg240fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown