M1T (p.Met1Thr) variant of BARD1 (Q99728)
M1T (p.Met1Thr) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast; not provided. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1553628504
- ClinGen CA350465532
- ClinVar RCV000550807
- ClinVar RCV000985352
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast; not provided
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- 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)