S37G (p.Ser37Gly) variant of BARD1 (Q99728)
S37G (p.Ser37Gly) 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; not provided. The record also includes published literature and structural context.
S37G (p.Ser37Gly) variant details
- p.Ser37Gly
- rs1064793565
- ClinGen CA16617459
- ClinVar RCV000486197
- ClinVar RCV000810328
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided
- Missense
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- 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)