Table 3 Potentially actionable (PAF) and potentially important (PIF) findings in WES analysis of BC-CML patients.
Patient | Gene: mRNA Accession#:Exon#: Variant | CancerVar Score | Leukemogenic Class | ACMG/AMP/CGI classification | CADD phred | Biomarker Type | DP (VAF) | PAF/PIF |
|---|---|---|---|---|---|---|---|---|
P1 | ASXL1:NM_015338.6::exon13:c.1879dup:p.A627Gfs*8 | 7 | III | P/Tier1/Dv | 33 | T-D-P | 90 (34.4%) | PAF |
P1 | ABL1: NM_007313.2:exon4: c. 814T > C:p.Y272H | 8 | I | P/Tier2/kDv | 28.2 | T | 125 (43.2%) | PAF |
P1 | GATA2: NM_032638.5:exon5: c. 1076T > C:p.L359S | 9 | II | LP/Tier2/Dv | 29.6 | T-P | 123 (50.4%) | PAF |
P1 | ABL1:NM_005157.6:exon7: c.1253T > C:p.I418T | 4 | I | LP/Tier3/Dv | 25.3 | T | 88 (45.4%) | PIF |
P1 | PIK3CB:NM_006219.3:exon6: c.692G > A:p.R231H | 8 | I | VUS/Tier2/Dv | 34 | T | 120 (45%) | PIF$ |
P1 | CHEK2:NM_007194.4:exon2: c.-4C > T | 2 | IV | VUS-P/Tier3/Ps | 3.46 |  | 66 (51.2%) | PIF |
P2 | ABL1:NM_005157:exon6: c.1075T > G:p.F359V | 8 | I | P/Tier1/kDv | 32 | T | 40 (55%) | PAF |
P2 | ASXL1:NM_015338.6:exon13:c.1934dup:p.G646Wfs*12 | 9 | III | P/Tier2/Dv | 33 | T-D-P | 92 (45.6%) | PAF |
P2 | BRCA2:NM_000059.3:exon27: c.9875C > T:p.P3292L | 9 | IV | LB/Tier2/Dv | 33 | T-P | 55 (50.9%) | PIF |
P2 | ABL1:NM_005157:exon8: c.1376A > G:p.E459G | 7 | I | LP/Tier3/kDv | 33 | T | 94 (41.4%) | PIF |
P2 | PRPF8:NM_006445.4:exon34: c.5386G > A:p.G1796R | 6 | V | VUS-P/Tier3/Dv | 32 | T | 61 (96.7%) | PIF$ |
P2 | PHF6:NM_001015877.2:exon8: c.821G > A:p.R274Q | 7 | II | LP/Tier3/Dv | 35 | T | 45 (66.6%) | PIF$ |
P3 | PTPN11:NM_002834.4:exon13: c.1508G > T:p.G503V | 10 | I | P/Tier1/kDv | 32 | D-P | 94 (52%) | PAF |
P3 | IKZF1:NM_006060.6:exon6: c.623G > A:p.R208Q | 8 | II | LP/Tier2/Ps | 19.92 | P | 39 (100%) | PAF$ |
P3 | WT1:NM_024426.6:exon8: c.1303C > T:p.R435X | 7 | II | P/Tier3/Ps | 40 | P | 56 (82%) | PIF |
P3 | ATM:NM_000051.3:exon5: c.350G > A:p.C117Y | 8 | IV | VUS-P/Tier2/Dv | 29.3 | T-P | 52 (30.7%) | PIF$ |
