Table 3.
Types of BRCA1 mutations.
| Gene | Exon/intron | Nucleotide change | Amino acid change | Variant type | Database report | Frequency |
|---|---|---|---|---|---|---|
| BRCA 1 | Exon 1–2 | Deletion (exons 1–2) | Absent or disrupted protein product | Large deletion | Yes | 1 |
| BRCA 1 | Exon 2 | c.66dup | p.Glu23Argfs | Duplication/fs | Yes | 1 |
| BRCA 1 | Exon 3 | c.121C > T | p.His41Tyr | Missense | Yes | 1 |
| BRCA 1 | Exon 10 | c.3835del | p.Ala1279Hisfs | Deletion/fs | Yes | 1 |
| BRCA 1 | Exon 11 | c.3436_3439del | p.Cys1146LeufsTer | Deletion/fs | Yes | 2 |
| BRCA 1 | Exon 11 | c.798_799del | p.Ser267Lysfs | Deletion/fs | Yes | 1 |
| BRCA 1 | Exon 11 | c.2761C > T | p.Gln921Ter | Nonsense | Yes | 1 |
| BRCA 1 | Exon 11 | c.1961del | p.Lys654Serfs | Deletion/fs | Yes | 1 |
| BRCA 1 | Exon 11 | c.809del | p.His270Leufs | Deletion/ fs | Yes | 1 |
| BRCA 1 | Exon 11 | c.4065_4068del | p.Asn1355Lysfs | Deletion/fs | Yes | 2 |
| BRCA 1 | Exon 12 | c.4117G > T | p.Glu1373Ter | Nonsense | Yes | 4 |
| BRCA 1 | Exon 15 | c.4524G > A | p.Trp1508Ter | Nonsense | Yes | 1 |
| BRCA 1 | Exon 17 | c.5030_5033del | p.Thr1677Ilefs | Deletion/fs | Yes | 1 |
| BRCA 1 | Exon 18 | c.5123C > A | p.Ala1708Glu | Missense | Yes | 2 |
| BRCA 1 | Exon 18 | c.5095C > T | p.Arg1699Trp | Missense | Yes | 1 |
| BRCA 1 | Exon 19 | c.5161C > T | p.Gln1721Ter | Nonsense | Yes | 1 |
| BRCA 1 | Intron 17 | c.5074 + 3A > G/ IVS17 + 3 | Splice acceptor | Intervening sequence | Yes | 3 |