Table 1 Pathogenic variants VUS identified in our study
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 |