Table 3 Detected BRCA1/2 pathogenic variants
Gene | DNA level (Protein level) | NM | Families | Exon | Variant type | Molecular consequence | Protein consequence | Variant coverage |
|---|---|---|---|---|---|---|---|---|
BRCA1 | c.798_799delTT (p.Ser267fs) | 3 | I,II,III | 11 | Deletion | frameshift | Premature stop codon at p.Ser267Lysfs*19 | 834 |
1007 | ||||||||
768 | ||||||||
c.3279delC (P.Tyr1094fs) | 4 | IV,V,VI | 11 | Deletion | framshift | Premature stop codon at p.Tyr1094Ilefs*15 | 531 | |
468 | ||||||||
679 | ||||||||
788 | ||||||||
c.4823C > G (p.Ser1608Ter) | 1 | VII | 16 | SNV | nonsense | Premature stop codon atp. Ser1608Ter | 1340 | |
c.1016dupA (p.Val340fs) | 1 | VIII | 10 | duplication | frameshift | Premature stop codon atp. Val340Glyfs*6 | 543 | |
c.66_67delAG (p.Glu23fs) | 2 | IX, X | 2 | Deletion | frameshift | Premature stop codon atp. Glu23fs*17 | 634 | |
957 | ||||||||
c.5158C > T (p.Arg1720Trp) | 1 | XI | 18 | SNV | missense | Premature stop codon atp. Arg1720Trp | 729 | |
BRCA2 | c.1302_1305delAAGA (p.Lys437fs) | 1 | XII | 10 | Deletion | frameshift | Premature stop codon atp. Lys437fs*22 | 934 |
c.7110delA (p.Lys2370fs) | 1 | XIII | 14 | Deletion | frameshift | Premature stop codon atp. Lys2370fs* | 1021 | |
c.3847_3848delGT (p.Val1283fs) | 1 | XIV | 11 | Deletion | frameshift | Premature stop codon atP.Val1283fs*2 | 670 | |
c.5576-5579delTTAA (p.I1859fs) | 1 | XV | 11 | Deletion | frameshift | Premature stop codon atp. I1859fs*3 | 534 | |
c.7235_7236insG (p.Lys2413fs) | 1 | XVI | 14 | insertion | frameshift | Premature stop codon atp. Lys2413fs* | 760 | |
c.3860delA (p.Asn1287fs) | 1 | XVII | Â | Deletion | frameshift | Premature stop codon atp. Asn1287fs*6 | 1167 |