Table 1.
Driver somatic variants detected in germ line RUNX1, GATA2, or DDX41 carriers-without HM
| Individual |
Phenotype |
Gene |
Somatic variant |
|||||
|---|---|---|---|---|---|---|---|---|
| Clinical presentation | Age | Sex | Genomic coordinates | c_HGVS | p_HGVS | VAF (%) | ||
| M09_1 | Thrombocytopenia | 16 | F | BCOR | X:39933270 CA>C | NM_001123385.2:c.1328del | p.Leu443CysfsTer8 | 8.3 |
| M01_3 | Thrombocytopenia | 17 | M | ATP10A | 15:25953381 G>A | NM_024490.3:c.2411C>T | p.Ala804Val | 5.0 |
| M03_2 | Thrombocytopenia | 17 | M | PHF6 | X:133527608 CTG>C | NM_032458.3:c.321_322del | p.Ala108IlefsTer3 | 39.4 |
| CUX1 | 7:101882720 G>A | NM_001202543.2:c.3776G>A | p.Arg1259Gln | 42.3 | ||||
| IDH2 | 15:90631934 C>T | NM_002168.3:c.419G>A | p.Arg140Gln | 9.7 | ||||
| G01_2 | Thrombocytopenia | 19 | F | NOTCH3 | 19:15276860 GC>G | NM_000435.3:c.5404del | p.Ala1802LeufsTer23 | 3.2 |
| V01_1 | Thrombocytopenia | 23 | M | EP300 | 22:41574723 TCCACACCACGTTTCC>T | NM_001429.3:c.7014_7028del15 | p.His2338_Pro2342del | 29.6 |
| G07_3 | Thrombocytopenia | 33 | M | BCOR | X:39932334 G>GT | NM_001123385.2:c.2264dup | p.Tyr755Ter | 2.4 |
| M06_2 | Thrombocytopenia | 37 | F | TET2 | 4:106164068 G>A | NM_001127208.3):c.3578G>A | p.Cys1193Tyr | 11.3 |
| G07_2 | Thrombocytopenia | 40 | M | TET2 | 4:106164787 C>T | NM_001127208.3:c.3655C>T | p.His1219Tyr | 5.3 |
| S_G_3 | Thrombocytopenia | 40 | F | TET2 | 4:106196461 T>G | NM_001127208.3:c.4794T>G | p.Tyr1598Ter | 5.0 |
| W01_3 | Thrombocytopenia | 40 | M | BCOR | X:39921617 CG>C | NM_001123385.2:c.4202del | p.Pro1401ArgfsTer83 | 20.8 |
| S_D_2 | Thrombocytopenia | 43 | M | DNMT3A | 2:25463242 AG>A | NM_022552.5:c.2250del | p.Phe751SerfsTer28 | 3.1 |
| 48 | M | DNMT3A | 2:25463242 AG>A | NM_022552.5:c.2250del | p.Phe751SerfsTer28 | 4.9 | ||
| U02_1 | Thrombocytopenia | 49 | M | TET2 | 4:106162587 G>A | NM_001127208.3:c.3500+1G>A | p.? | 2.6 |
| A01_1 | Thrombocytopenia | 53 | F | TET2 | 4:106158510 T>C | NM_001127208.3:c.3409+2T>C | p.? | 33.3 |
| DNMT3A | 2:25497943 CG>C | NM_022552.5:c.505del | p.Arg169GlyfsTer56 | 29.6 | ||||
| SRSF2 | 17:74732959 G>A | NM_003016.4:c.284C>T | p.Pro95Leu | 22.9 | ||||
| 56 | F | DNMT3A | 2:25497943 CG>C | NM_022552.5:c.505del | p.Arg169GlyfsTer56 | 42.8 | ||
| TET2 | 4:106158510 T>C | NM_001127208.3:c.3409+2T>C | p.? | 30.5 | ||||
| SRSF2 | 17:74732959 G>A | NM_003016.4:c.284C>T | p.Pro95Leu | 28.0 | ||||
| G02_2 | Thrombocytopenia | 55 | M | BCOR | X:39932898 T>TG | NM_001123385.2:c.1700dup | p.Ala568SerfsTer43 | 6.7 |
| BCOR | X:39923055 C>T | NM_001123385.2:c.3653G>A | p.Trp1218Ter | 4.3 | ||||
| BCOR | X:39911577 GA>G | NM_001123385.2:c.5052del | p.Pro1685GlnfsTer40 | 2.5 | ||||
| 54 | M | BCOR | X:39932898 T>TG | NM_001123385.2:c.1700dup | p.Ala568SerfsTer43 | 6.4 | ||
| BCOR | X:39923055 C>T | NM_001123385.2:c.3653G>A | p.Trp1218Ter | 2.2 | ||||
| BCOR | X:39933676 TG>T | NM_001123385.2:c.922del | p.Gln308ArgfsTer70 | 1.2 | ||||
| BCOR | X:39933416 TG>T | NM_001123385.2:c.1182del | p.Lys395ArgfsTer47 | 0.7 | ||||
| X01_1 | Asymptomatic | 60 | F | BCOR | X:39932109 ACT>A | NM_001123385.2:c.2488_2489del | p.Ser830CysfsTer6 | 17.6 |
| W01_2 | Thrombocytopenia | 68 | M | BCOR | X:39933593 A>AG | NM_001123385.2:c.1005dup | p.Ser336LeufsTer45 | 7.1 |
| I03_2 (BM) | Thrombocytopenia | 72 | F | DNMT3A | 2:25470029 T>C | NM_022552.5:c.1015-2A>G | p.? | 13.3 |
| BCOR | X:39933492 TG>T | NM_001123385.2:c.1106del | p.Ser369Ter | 4.0 | ||||
| F01_6 | Thrombocytopenia | 76 | M | BCOR | X:39916476 C>T | NM_001123385.2:c.4527G>A | p.Trp1509Ter | 13.6 |
| ATM | 11:108213949 G>A | NM_000051.3:c.8269G>A | p.Val2757Met | 17.0 | ||||
| GRIN2A | 16:9857831 G>C | NM_000833.4:c.3570C>G | p.His1190Gln | 14.5 | ||||
| F01_8 | Thrombocytopenia | 76 | M | BCOR | X:39921490 TG>T | NM_001123385.2:c.4329del | p.Thr1444ProfsTer40 | 34.7 |
| TP53 | 17:7578442 T>C | NM_000546.6:c.488A>G | p.Tyr163Cys | 4.1 | ||||
| CCND3 | 6:41903707 G>A | NM_001760.4:c.850C>T | p.Pro284Ser | 3.5 | ||||
| U02_3 | Asymptomatic | NA | M | TET2 | 4:106162587 G>A | NM_001127208.3:c.3500+1G>A | p.? | 1.2 |
| S_E_4 | Thrombocytopenia | NA | F | SRSF2 | 17:74732959 G>T | NM_003016.4:c.284C>A | p.Pro95His | 13.9 |
| ATR | 3:142281940 A>G | NM_001184.4:c.304T>C | p.Trp102Arg | 3.9 | ||||
| D01_2 | Thrombocytopenia | NA | M | DNMT3A | 2:25466797 C>T | NM_022552.5:c.1906G>A | p.Val636Met | 24.7 |
| BCOR | X:39923092 TA>T | NM_001123385.2:c.3615del | p.Lys1207AsnfsTer31 | 3.6 | ||||
| DNMT3A | 2:25464460 C>T | NM_022552.5:c.2053G>A | p.Gly685Arg | 3.2 | ||||
| BCOR | X:39933373 TGCCCGG>TT | NM_001123385.2:c.1220_1225delCCGGGCinsA | p.Pro407GlnfsTer31 | 3.1 | ||||
| D02_2 | Thrombocytopenia | NA | F | PTPN11 | 12:112926887 G>A | NM_002834.4:c.1507G>A | p.Gly503Arg | 25.2 |
| U02_4 | NA | NA | F | TET2 | 4:106157215 C>T | NM_001127208.3:c.2116C>T | p.Gln706Ter | 7.3 |
| Family_53_8 | Asymptomatic | 16.5 | F | KDM5A | 12:416952 C>CT | NM_001042603.3:c.3597dup | p.Gly1200ArgfsTer7 | 3.2 |
| Family_53_3 | Asymptomatic | 47 | M | DNMT3A | 2:25457171 T>A | NM_022552.5:c.2716A>T | p.Lys906Ter | 3.6 |
| Family_0127.041 | Asymptomatic | 87 | F | ASXL1 | 20:31022576 TAC>T | NM_015338.5:c.2062_2063del | p.Thr688fs29 | 4.2 |
| DNMT3A | 2:25467022 A>G | NM_022552.5:c.1851+2T>C | p.? | 4.1 | ||||