R8T (p.Arg8Thr) variant of BARD1 (Q99728)
R8T (p.Arg8Thr) 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; not provided. The record also includes published literature and structural context.
R8T (p.Arg8Thr) variant details
- p.Arg8Thr
- rs1696475444
- ClinGen CA350465424
- ClinVar RCV003318203
- ClinVar RCV003585377
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)