Table 1. Training set of nucleotide variations. Nucleotide position was numbered on the basis of the coding sequences NM_007294.2 and NM_000059.3 for BRCA1 and BRCA2, respectively.
| Gene | Variant type | Description |
|---|---|---|
| BRCA 1 | Large rearrangements | c.(?_-232)_c.441+? del (deletion from 5' to exon 7) |
| c.4676-?_c.5074+? del (deletion of exons 16 and 17) | ||
| c.671-?_c.4185+? del (deletion of exons 11 and 12) | ||
| c.81-?_c.547+? dup (duplication from exon 3 to exon 8) | ||
| Insertions/deletions (homopolymer regions excluded) | c.19_47del c.68_69del | |
| c.1121del | ||
| c.3013del | ||
| c.3416_3427delinsC | ||
| c.3481_3491del | ||
| c.3680_3729dup | ||
| c.3839_3843delinsAGGC | ||
| c.4243_4281dup | ||
| c.5030_5033del | ||
| Insertions/deletions in homopolymer regions | c.5266dup c.1016dup | |
| c.1961dup | ||
| c.1961del | ||
| c.2071del | ||
| c.211del | ||
| c.3926del | ||
| c.2429del | ||
| c.3285del | ||
| SNVs (polymorphisms excluded) | c.736T>G | |
| c.5471T>A | ||
| BRCA2 | Large rearrangements | c.8332-?_c.8632+? dup (duplication of exons 19 and 20) |
| c.(?_-227)_(*902_?) del (whole gene deletion) | ||
| Insertions/deletions | c.3645_3646delinsTAAAAAG | |
| (homopolymer regions excluded) | c.5835_5842dup | |
| Insertions/deletions in homopolymer regions | c.161del c.994dup | |
| c.1231del | ||
| c.1593dup | ||
| c.1813dup | ||
| c.1929del | ||
| c.2175dup | ||
| c.2588dup | ||
| c.4284dup | ||
| c.5351del | ||
| c.5351dup | ||
| c.6373dup | ||
| c.7680dup | ||
| c.8207del | ||
| SNVs (polymorphisms excluded) | c.223G>C | |
| c.4208C>T | ||
| c.5704G>A | ||
| c.8182G>A | ||
| c.8630A>G | ||
| c.9154C>T | ||
Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence.