Skip to main content

Table 3 Novel variants identified in this study

From: Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso

  Gene Location HGSV nucleotide HGSV protein Number of carriers Functional domain Mutation taster PolyPhen-2 CADD Score ACMG Criteria
Novel variants BRCA1 Exonic c.872T>A p.Leu291* 1 No Disease causing 35 PVS1, PM2, PP3
   Exonic c.2359G>A p.Glu787Lys 1 No Polymorphism Possibly damaging 14.77 PM2, BP4
  1. ACMG: American College of Medical Genetics; CADD: Combined Annotation Dependent Depletion