Details of BCOR-disruptive mutations observed in AML patients
| Patient ID . | Cohort . | Sex . | Exon . | Mutation* . | Predicted consequence . | Analysis type† . | Blasts, %§ . | Mutated reads, % . | Coverage, fold . |
|---|---|---|---|---|---|---|---|---|---|
| 1‡ | Munich | F | 7 | 39808770insAT | Arg1089HisfsX25 | gDNA/WES | 83 | 40 | 35 |
| 2 | Munich | M | 15 | 4981C > T | Arg1661X | cDNA/454 | 72 | 97 | 968 |
| 3 | Munich | M | 12 | 4639C > T | Arg1547X | cDNA/454 | 3 | 64 | 315 |
| 4 | Munich | M | 4 | 2920_2923dupGGTG | Asp975GlyfsX2 | cDNA/454 | 60 | 92 | 1126 |
| 5 | Munich | M | 4 | 1116delCinsGG | Ser369TrpfsX12 | cDNA/454 | 57 | 94 | 971 |
| 6 | Munich | F | 14 | 4925C > G | Ser1642X | gDNA/454 and cDNA/454 | 84 | 25 and 97 | 783 and 1479 |
| 7 | Munich | M | 4 | 1024C > T | Arg342X | gDNA/454 and cDNA/454 | 25 | 96 and 44 | 637 and 1859 |
| 8 | Munich | F | 9 | 4257_4258delTG | Cys1363GlnfsX78 | gDNA/454 and cDNA/454 | 60 | 40 and 40 | 536 and 2064 |
| 9 | Munich | F | 4 | 2814dupC | Tyr939LeufsX7 | gDNA/454 and cDNA/454 | 67 | 46 and 90 | 861 and 1492 |
| 10 | Munich | M | 9 | 4272dupG | Gly1376IlefsX65 | gDNA/454 and cDNA/454 | 90 | 30 and 26 | 196 and 2064 |
| 11 | Munich | F | 11 | 4440–1G > A | Consensus splice site mutation | gDNA/454 and cDNA/454 | 96 | 43 and 85 | 529 and 1025 |
| 12 | Munich | F | 4 | 865dupT | Trp289LeufsX12 | gDNA/454 and cDNA/454 | 59 | 35 and 93 | 553 and 915 |
| 13 | Munich | F | 14 | 4936dupC | Leu1646ProfsX6 | gDNA/454 and cDNA/454 | 93 | 27 and 32 | 151 and 1479 |
| 14 | Munich | M | 12 | 4639C > T | Arg1547X | gDNA/454 | 18 | 20 | 715 |
| 93 | Munich | M | 10 | 4428 + 1G > A | Consensus splice site mutation | gDNA/454 and cDNA/454 | 78 | 98 and 28 | 556 and 745 |
| 136 | Munich | F | 15 | 5011A > T | Lys1671X | gDNA/454 and cDNA/454 | 91 | 42 and 91 | 659 and 859 |
| 197 | Perugia | F | 4 | 104639insA | Gly886ArgfsX30 | gDNA/Sanger | 90 | n.a. | n.a. |
| 169 | Perugia | M | 4 | 104361C > T | Gln793X | gDNA/Sanger | 30 | n.a. | n.a. |
| 406II | Perugia | F | 11 | 120035delC | Asn1485LysfsX5 | gDNA/Sanger | 70 | n.a. | n.a. |
| 326 | Perugia | M | 4 | 104181_104182delAC | Thr733AlafsX5 | gDNA/Sanger | 90 | n.a. | n.a. |
| 258 | Perugia | F | 4 | 102717_102720delCTCT | Leu245ThrfsX19 | gDNA/Sanger | 100 | n.a. | n.a. |
| 644 | Perugia | F | 4 | 104004delC | His674MetfsX41 | gDNA/Sanger | 80 | n.a. | n.a. |
| 447 | Perugia | M | 7 | 112835_112844delCCTCCCGCAG | Pro1115ThrfsX41 | gDNA/Sanger | 67 | n.a. | n.a. |
| 139 | Perugia | F | 4 | 103183delG | Gly400AlafsX41 | gDNA/Sanger | 75 | n.a. | n.a. |
| 110 | Perugia | F | 12 | 121963G → A | Consensus splice site mutation | gDNA/Sanger | 85 | n.a. | n.a. |
| 119 | Perugia | M | 11 | 120008G → C | Consensus splice site mutation | gDNA/Sanger | 32 | n.a. | n.a. |
| Patient ID . | Cohort . | Sex . | Exon . | Mutation* . | Predicted consequence . | Analysis type† . | Blasts, %§ . | Mutated reads, % . | Coverage, fold . |
|---|---|---|---|---|---|---|---|---|---|
| 1‡ | Munich | F | 7 | 39808770insAT | Arg1089HisfsX25 | gDNA/WES | 83 | 40 | 35 |
| 2 | Munich | M | 15 | 4981C > T | Arg1661X | cDNA/454 | 72 | 97 | 968 |
| 3 | Munich | M | 12 | 4639C > T | Arg1547X | cDNA/454 | 3 | 64 | 315 |
| 4 | Munich | M | 4 | 2920_2923dupGGTG | Asp975GlyfsX2 | cDNA/454 | 60 | 92 | 1126 |
| 5 | Munich | M | 4 | 1116delCinsGG | Ser369TrpfsX12 | cDNA/454 | 57 | 94 | 971 |
| 6 | Munich | F | 14 | 4925C > G | Ser1642X | gDNA/454 and cDNA/454 | 84 | 25 and 97 | 783 and 1479 |
| 7 | Munich | M | 4 | 1024C > T | Arg342X | gDNA/454 and cDNA/454 | 25 | 96 and 44 | 637 and 1859 |
| 8 | Munich | F | 9 | 4257_4258delTG | Cys1363GlnfsX78 | gDNA/454 and cDNA/454 | 60 | 40 and 40 | 536 and 2064 |
| 9 | Munich | F | 4 | 2814dupC | Tyr939LeufsX7 | gDNA/454 and cDNA/454 | 67 | 46 and 90 | 861 and 1492 |
| 10 | Munich | M | 9 | 4272dupG | Gly1376IlefsX65 | gDNA/454 and cDNA/454 | 90 | 30 and 26 | 196 and 2064 |
| 11 | Munich | F | 11 | 4440–1G > A | Consensus splice site mutation | gDNA/454 and cDNA/454 | 96 | 43 and 85 | 529 and 1025 |
| 12 | Munich | F | 4 | 865dupT | Trp289LeufsX12 | gDNA/454 and cDNA/454 | 59 | 35 and 93 | 553 and 915 |
| 13 | Munich | F | 14 | 4936dupC | Leu1646ProfsX6 | gDNA/454 and cDNA/454 | 93 | 27 and 32 | 151 and 1479 |
| 14 | Munich | M | 12 | 4639C > T | Arg1547X | gDNA/454 | 18 | 20 | 715 |
| 93 | Munich | M | 10 | 4428 + 1G > A | Consensus splice site mutation | gDNA/454 and cDNA/454 | 78 | 98 and 28 | 556 and 745 |
| 136 | Munich | F | 15 | 5011A > T | Lys1671X | gDNA/454 and cDNA/454 | 91 | 42 and 91 | 659 and 859 |
| 197 | Perugia | F | 4 | 104639insA | Gly886ArgfsX30 | gDNA/Sanger | 90 | n.a. | n.a. |
| 169 | Perugia | M | 4 | 104361C > T | Gln793X | gDNA/Sanger | 30 | n.a. | n.a. |
| 406II | Perugia | F | 11 | 120035delC | Asn1485LysfsX5 | gDNA/Sanger | 70 | n.a. | n.a. |
| 326 | Perugia | M | 4 | 104181_104182delAC | Thr733AlafsX5 | gDNA/Sanger | 90 | n.a. | n.a. |
| 258 | Perugia | F | 4 | 102717_102720delCTCT | Leu245ThrfsX19 | gDNA/Sanger | 100 | n.a. | n.a. |
| 644 | Perugia | F | 4 | 104004delC | His674MetfsX41 | gDNA/Sanger | 80 | n.a. | n.a. |
| 447 | Perugia | M | 7 | 112835_112844delCCTCCCGCAG | Pro1115ThrfsX41 | gDNA/Sanger | 67 | n.a. | n.a. |
| 139 | Perugia | F | 4 | 103183delG | Gly400AlafsX41 | gDNA/Sanger | 75 | n.a. | n.a. |
| 110 | Perugia | F | 12 | 121963G → A | Consensus splice site mutation | gDNA/Sanger | 85 | n.a. | n.a. |
| 119 | Perugia | M | 11 | 120008G → C | Consensus splice site mutation | gDNA/Sanger | 32 | n.a. | n.a. |
n.a. indicates not applicable to direct Sanger sequencing. In the chromatogram of these samples, the size of the mutated peak relative to the proportion of leukemic cells was consistent with a clonal event.
Numbers are according to transcript-ID ENST00000378444 (for samples analyzed in Munich) and according to NG_008880.1 (for samples analyzed in Perugia).
In 10 cases, the disruptive mutation was validated with either genomic DNA or cDNA.
Index patient.
Blast percentage is given according to the diagnostic report; the percentage of leukemic cells actually present can be greater in the samples used for sequencing because the latter were mostly Ficoll-enriched with mononuclear leukemic cells before nucleic acid extraction. In the chromatogram of these samples, the size of the mutated peak relative to the proportion of leukemic cells was consistent with a clonal event.