R38C (p.Arg38Cys) variant of BARD1 (Q99728)
R38C (p.Arg38Cys) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary breast ovarian cancer syndrome; Familial cancer of breast; Hereditary. The record also includes published literature and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- rs1553628385
- ClinGen CA350464977
- ClinVar RCV000573431
- ClinVar RCV001867876
- Uncertain significance
- Hereditary breast ovarian cancer syndrome; Familial cancer of breast; Hereditary
- Missense
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome; Familial cancer of br)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)