M1F (p.Met1Phe) variant of CHEK2 (O96017)
M1F (p.Met1Phe) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast. The record also includes published literature and structural context.
M1F (p.Met1Phe) variant details
- p.Met1Phe
- rs2518136497
- ClinGen CA2580099481
- ClinVar RCV002428813
- ClinVar RCV003336743
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)