M1R (p.Met1Arg) variant of RAD51D (O75771)
M1R (p.Met1Arg) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Hereditary breast ovarian. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1064794619
- ClinGen CA16620396
- ClinVar RCV000481968
- ClinVar RCV001865452
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Hereditary breast ovarian
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)