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Table 1 Pathogenic variants VUS identified in our 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 dbSNP Allele frequency Allele frequency in Africa (gnomAD) p value All populations Frequency ACMG criteria
Pathogenic variants
BRCA1 Exonic c.5177_5180delGAAA p.Arg1726Lysfs*3 1 rs80357975 0.98% 0.012% 0.01 0.0008% PVS1, PP5, PM2, PM3
  Exonic c.4088C>G p.Ser1363* 2 rs398122680 1.96% 0.006% 0.00003 0.0004% PVS1, PP5, PM2, PM3
  Intronic c.4986+6T>C p.(?) 2 rs80358086 1.96% 0% 0.00001 0.0004% PP5, PM2, BP4
BRCA2 Exonic c.6445_6446delAT p.Ile2149* 1 rs80359592 0.98% Not Reported - - PVS1, PP5, PM2
  Exonic c.8009C>T p.Ser2670Leu 1 rs80359035 0.98% Not Reported - - PP5, PM2, PM3
  Exonic c.6757_6758delCT p.Leu2253Phefs*7 1 rs80359623 0.98% 0% 0.003 0.0004% PVS1, PP5, PM2
VUS
BRCA1 Exonic c.5348T>C p.Met1783Thr 1 rs55808233 0.98% 0.17% 0.16 0.016% PM1, PM2, PP3,PP5
BRCA2 Exonic c.7504C>T p.Arg2502Cys 1 rs55716624 0.98% 0.32% 0.28 0.033% PM2, BP4
  1. Significant differences are reported in bold
  2. ACMG: American College of Medical Genetics