A40T (p.Ala40Thr) variant of BARD1 (Q99728)
A40T (p.Ala40Thr) 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.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- rs1553628378
- ClinGen CA350464949
- ClinVar RCV000572951
- ClinVar RCV005091292
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- 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)