M1V (p.Met1Val) variant of RAD51D (O75771)
M1V (p.Met1Val) 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 population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs561425038
- ClinGen CA287962
- ClinVar RCV000505741
- ClinVar RCV000574809
- 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
- Population evidence available
- 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)