Table 1.
ETV6-NTRK3 variant table
| Gene | Chromosome | HGVS DNA reference | HGVS protein reference | Variant type | Predicted effect | Variant allele frequency | Total reads | Sample ID |
|---|---|---|---|---|---|---|---|---|
| ETV6-NTRK3 | 12 | t(12;15)(p13;q25) (hg19 Chr 12: 12006495 : Chr 15: 88576276) | n/a | ETV6-NTRK3 fusion | Oncogenic, sensitivity to TRK inhibitors. | n/a | 2317 | Diagnostic |
| ETV6-NTRK3 | 12 | t(12;15)(p13;q25) (hg19 Chr 12: 12006495 : Chr 15: 88576276) | n/a | ETV6-NTRK3 fusion | Oncogenic sensitivity to TRK inhibitors | n/a | 1125 | 4093-09 |
| ETV6-NTRK3 | 12 | t(12;15)(p13;q25) (hg19 Chr 12: 12006495 : Chr 15: 88576276) | n/a | ETV6-NTRK3 fusion | Oncogenic sensitivity to TRK inhibitors | n/a | 4439 | 4093-19 |
| ETV6-NTRK3 | 12 | t(12;15)(p13;q25) (hg19 Chr 12: 12006495 : Chr 15: 88576276) | n/a | ETV6-NTRK3 fusion | Oncogenic sensitivity to TRK inhibitors | n/a | 6114 | 4093-22 |
| ETV6-NTRK3 | 12 | t(12;15)(p13;q25) (hg19 Chr 12: 12006495 : Chr 15: 88576276) | n/a | ETV6-NTRK3 fusion | Oncogenic sensitivity to TRK inhibitors | n/a | 9065 | 4093-26 |
| NTRK3 | 15 | c.1868G > C | p. G623A | Substitution | Entrectinib resistance | 36% | 215 | 4093-26 |
| NTRK3 | 15 | c.1868G > A | p. G623E | Substitution | Cabozantinib, entrectinib, larotrectinib, repotrectinib, and selitrectinib resistance | 33% | 269 | 4093-19 |
| NTRK3 | 15 | c.1868G > A | p. G623E | Substitution | Cabozantinib, entrectinib, larotrectinib, repotrectinib, and selitrectinib resistance | 37% | 230 | 4093-22 |