I14M (p.Ile14Met) variant of BARD1 (Q99728)
I14M (p.Ile14Met) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
I14M (p.Ile14Met) variant details
- p.Ile14Met
- rs746266678
- ClinGen CA350465312
- ClinVar RCV001213115
- ClinVar RCV002327496
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Benign
- UniProt: Benign
- 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)