Extended Data Table 5 Summary of BRCA2 MAVE ClinGen/ACMG/AMP BRCA1/2 VCEP rules classification

From: Functional evaluation and clinical classification of BRCA2 variants

  1. MAVE: multiplex assays of variant effect; ACMG/AMP: American College of Medical Genetics/ Association for Molecular Pathology; DBD: DNA binding domain; SNVs: single nucleotide variant; ENIGMA: Evidence-based Network for the Interpretation of Germline Mutant Alleles; B: benign; LB: likely benign; P: pathogenic; LP: likely pathogenic; VUS: variant of uncertain significance.
  2. Note: all variants evaluated were restricted to BRCA2 DBD SNVs including adjacent intronic +/−10nt region of each exon. ClinVar VUS refers to variants identified as VUS by at least one reporting group in ClinVar, unless classified as B/LB or P/LP by the BRCA1/2 VCEP.
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