M1I (p.Met1Ile) variant of BARD1 (Q99728)
M1I (p.Met1Ile) in BARD1 (Q99728) 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; Familial cancer of breast. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs587780031
- ClinGen CA287547
- ClinVar RCV000115635
- ClinVar RCV001216890
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Pathogenic
- UniProt: 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)