Characteristics of patients selected for WGS
| Patient ID . | Age . | Sex . | DNMT3A status . | DNMT3A mutation (HGVSc, NM_022552.5) . | DNMT3A mutation (HGVSp, NP_072046) . | VAF . | Effect of mutation . | Karyotype . |
|---|---|---|---|---|---|---|---|---|
| WT-1 | 63 | F | WT | No mutation | No mutation | None | 46,XX[22] | |
| WT-2 | 49 | F | WT | No mutation | No mutation | None | 47,XX,+21[11]/46,XX[8] | |
| WT-3 | 54 | F | WT | No mutation | No mutation | None | 46,XX [?] | |
| WT-4 | 65 | F | WT-IDH mutant | No mutation | No mutation | None | 46,XX[20] | |
| WT-5 | 65 | F | WT-IDH mutant | No mutation | No mutation | None | 46,XX[20] | |
| WT-6 | 52 | F | WT-IDH mutant | No mutation | No mutation | None | 46,XX[25] | |
| SM-1 | 56 | F | SM | c.2006_2007insGATAAGCTGGAGCTGCAGGAGTGTCTGGAGCA | p.His821fs | 0.377 | Frameshift | 46,XX[31] |
| SM-2 | 49 | M | SM | c.2644C>T | p.Arg882Cys | 0.469 | Missense | 46,XY,t(2;17)(q?31;p11),+?add(11)(p10),-20[19]/46,XY,der(11;12)(q10;q10),+del(12)(p11p12)[6] |
| SM-3 | 59 | F | SM | c.2644C>T | p.Arg882Cys | 0.439 | Missense | 46,XX[21] |
| SM-4 | 44 | F | SM | c.2711C>T | p.Pro904Leu | 0.303 | Missense | 46,XX[21] |
| SM-5 | 69 | F | SM | c.2264T>C | p.Phe755Ser | 0.445 | Missense | 46,XX[20] |
| SM-6 | 69 | M | SM | c.1166delA | p.Asp389fs | 0.470 | Frameshift | 46,XY[20] |
| SM-7 | 49 | F | SM | c.2576T>A | p.Leu859∗ | 0.464 | Stopgain | 45,XX,-7[18]/46,XX[2] |
| DM-1 | 65 | F | DM | c.994G>A | p.Gly332Arg | 0.517 | Missense | 46,XX,?del(17)(q?)[4]/45,XX,-7[3]/46,XX[23] |
| c.2578T>C | p.Trp860Arg | 0.477 | Missense | |||||
| DM-2 | 39 | F | DM | c.1910T>C | p.Leu637Pro | 0.930 | Missense | 46,XX,del(2)(p2?2p2?4)[7],add(15)(p10)[cp9]/46,XX[16] |
| DM-3 | 63 | F | DM | c.972delC | p.Thr325fs | 0.713 | Frameshift | 46,XX,t(7;10)(p13;q22),del(12)(q22q24)[12]/46,idem, del(18)(p11)[10]/46,XX[6] |
| DM-4 | 63 | F | DM | . c.1154delC | p.Pro385fs | 0.459 | Frameshift | 47,XX,+8[21] |
| . c.1792C>T | p.Arg598∗ | 0.451 | Stopgain | |||||
| DM-5 | 63 | M | DM | c.1516_1517insGGGGT | p.His506fs | 0.384 | Frameshift | 46,XY[24] |
| 2. c.1919T>C | p.Phe640Ser | 0.387 | Missense | |||||
| DM-6 | 49 | F | DM | c.2311C>T | p.Arg771∗ | 0.920 | Stopgain | 46,XX[20] |
| DM-7 | 78 | F | DM | c.2309C>A | p.Ser770∗ | 0.426 | Stopgain | 46,XX[20] |
| c.2043delC | p.Met682fs | 0.430 | Frameshift | |||||
| DM-8 | 53 | F | DM | c.1656delC | p.Asn552fs | 0.831 | Frameshift | N.A. |
| DM-9 | 67 | M | DM | c.2311C>T | p.Arg771∗ | 0.405 | Stopgain | N.A. |
| c.2196dupT | p.Glu733fs | 0.411 | Frameshift |
| Patient ID . | Age . | Sex . | DNMT3A status . | DNMT3A mutation (HGVSc, NM_022552.5) . | DNMT3A mutation (HGVSp, NP_072046) . | VAF . | Effect of mutation . | Karyotype . |
|---|---|---|---|---|---|---|---|---|
| WT-1 | 63 | F | WT | No mutation | No mutation | None | 46,XX[22] | |
| WT-2 | 49 | F | WT | No mutation | No mutation | None | 47,XX,+21[11]/46,XX[8] | |
| WT-3 | 54 | F | WT | No mutation | No mutation | None | 46,XX [?] | |
| WT-4 | 65 | F | WT-IDH mutant | No mutation | No mutation | None | 46,XX[20] | |
| WT-5 | 65 | F | WT-IDH mutant | No mutation | No mutation | None | 46,XX[20] | |
| WT-6 | 52 | F | WT-IDH mutant | No mutation | No mutation | None | 46,XX[25] | |
| SM-1 | 56 | F | SM | c.2006_2007insGATAAGCTGGAGCTGCAGGAGTGTCTGGAGCA | p.His821fs | 0.377 | Frameshift | 46,XX[31] |
| SM-2 | 49 | M | SM | c.2644C>T | p.Arg882Cys | 0.469 | Missense | 46,XY,t(2;17)(q?31;p11),+?add(11)(p10),-20[19]/46,XY,der(11;12)(q10;q10),+del(12)(p11p12)[6] |
| SM-3 | 59 | F | SM | c.2644C>T | p.Arg882Cys | 0.439 | Missense | 46,XX[21] |
| SM-4 | 44 | F | SM | c.2711C>T | p.Pro904Leu | 0.303 | Missense | 46,XX[21] |
| SM-5 | 69 | F | SM | c.2264T>C | p.Phe755Ser | 0.445 | Missense | 46,XX[20] |
| SM-6 | 69 | M | SM | c.1166delA | p.Asp389fs | 0.470 | Frameshift | 46,XY[20] |
| SM-7 | 49 | F | SM | c.2576T>A | p.Leu859∗ | 0.464 | Stopgain | 45,XX,-7[18]/46,XX[2] |
| DM-1 | 65 | F | DM | c.994G>A | p.Gly332Arg | 0.517 | Missense | 46,XX,?del(17)(q?)[4]/45,XX,-7[3]/46,XX[23] |
| c.2578T>C | p.Trp860Arg | 0.477 | Missense | |||||
| DM-2 | 39 | F | DM | c.1910T>C | p.Leu637Pro | 0.930 | Missense | 46,XX,del(2)(p2?2p2?4)[7],add(15)(p10)[cp9]/46,XX[16] |
| DM-3 | 63 | F | DM | c.972delC | p.Thr325fs | 0.713 | Frameshift | 46,XX,t(7;10)(p13;q22),del(12)(q22q24)[12]/46,idem, del(18)(p11)[10]/46,XX[6] |
| DM-4 | 63 | F | DM | . c.1154delC | p.Pro385fs | 0.459 | Frameshift | 47,XX,+8[21] |
| . c.1792C>T | p.Arg598∗ | 0.451 | Stopgain | |||||
| DM-5 | 63 | M | DM | c.1516_1517insGGGGT | p.His506fs | 0.384 | Frameshift | 46,XY[24] |
| 2. c.1919T>C | p.Phe640Ser | 0.387 | Missense | |||||
| DM-6 | 49 | F | DM | c.2311C>T | p.Arg771∗ | 0.920 | Stopgain | 46,XX[20] |
| DM-7 | 78 | F | DM | c.2309C>A | p.Ser770∗ | 0.426 | Stopgain | 46,XX[20] |
| c.2043delC | p.Met682fs | 0.430 | Frameshift | |||||
| DM-8 | 53 | F | DM | c.1656delC | p.Asn552fs | 0.831 | Frameshift | N.A. |
| DM-9 | 67 | M | DM | c.2311C>T | p.Arg771∗ | 0.405 | Stopgain | N.A. |
| c.2196dupT | p.Glu733fs | 0.411 | Frameshift |
F, female; HGVSc, human genome variation society coding DNA reference sequence; HGVSp, human genome variation society protein-level; M, male; N.A., not available.