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. 2023 May 24;142(7):643–657. doi: 10.1182/blood.2022019304

Table 2.

Characteristics of patients with germ line variants classified as P/LP, per the ACMG/AMP criteria, and causative for a congenital syndrome/disorder

Patient ID Age/sex Germ line
gene mutation		 VAF myeloid VAF Germ line Congenital S/D Somatic mutation
 Cytogenetics (% abnormal metaphases) Hb g/dl ANC, ×109/L Plt, ×109/L Diagnosis
Mutated gene VAF
PV1185 51/F CSF3R c.1474+1G>C
CSF3R p.(W566∗)		 0.40
0.40		 0.48
0.45		 SCN WT 46XX 13.2 0.5 275 ICUS
PV1395 82/M DDX41 p.(M1?) 0.46 0.48 DDX41-associated predisposition DDX41 0.11 45X;-Y (50) 13 0.9 193 MDS-MLD
PV1583 56/F DDX41 p.(M1?) 0.48 0.50 DDX41-associated predisposition SF3B1 0.02 46XX 10.4 0.4 90 MDS-EB-2
PV1336 59/M DDX41 p.(Q48∗) 0.48 0.48 DDX41-associated predisposition WT 46XY 12.2 2.9 165 MDS-EB-2
PV1475 66/M DDX41 p.(K102fs) 0.45 0.48 DDX41-associated predisposition WT failed NA MDS-EB-2
PV10015 62/M DDX41 p.(K102fs) 0.48 0.45 DDX41-associated predisposition WT 46XY; del(7) add(4) (18) 8.3 1.47 24 AML
PV1178 57/M DDX41 p.(I207T) 0.49 0.40 DDX41-associated predisposition DDX41 0.01 46XY 10.1 0.5 47 MDS-EB-2
PV1581 64/M DDX41 p.(I207T) 0.46 0.48 DDX41-associated predisposition WT 46XY 11.4 0.8 48 MDS-EB-2
PV693 49/M DDX41 p.(G218D) 0.49 0.50 DDX41-associated predisposition ASXL1
STAG2 		0.29
0.35		 46XY 14.4 1.76 80 MDS-EB-2
PV1591 66/M DDX41 p.(G218D) 0.48 0.49 DDX41-associated predisposition WT 46XY 11.8 1.67 181 MDS-EB-2
PV2607 65/M DDX41 p.(P258L) 0.49 0.46 DDX41-associated predisposition WT 46XY 12.5 2.44 60 ICUS
PV583 73/M DDX41 p.(Y259H) 0.46 0.48 DDX41-associated predisposition DDX41 0.11 46XY 11.6 1.5 101 MDS-MLD
PV554 60/F DDX41 p.(R267W) 0.44 0.50 DDX41-associated predisposition ASXL1
ATRX
BCOR 		0.38
0.14
0.12		 46XX 11.1 1.65 40 CCUS
PV1546 35/M ELANE p.(R220Q) 0.50 0.52 SCN WT 46XY 14 0.8 141 MDS-MLD
PV2613 54/F FANCA c.79+1G>C
FANCA p.(P1324L)		 0.50
0.49		 0.50
0.44		 FA WT 46XX; trp(q21;q32) add(19)(p13) (100) 10.6 0.8 33 MDS-MLD
PV2443 37/F FANCA p.(V372fs)∗ 0.99 0.97 FA WT complex karyotype (100) 12.5 0.7 106 MDS-MLD
PV1047 45/M FANCA p.(N1140fs) 1.00 0.98 FA ASXL1
EZH2
STAG2
TET2 		0.45
0.94
0.50
0.22		 46XY/47XY; del(5q) del(17p) +mar (80) 12 2.3 145 MDS-EB-1
PV10061 41/F FANCG p.(E395fs) 1.00 0.98 FA WT 46XX 10.6 1.4 110 ICUS
PV2292 32/M GATA1 c.-19-2A>G∗ 0.97 0.98 DBA WT 46XY 11.6 0.5 108 ICUS
PV2663 29/F GATA2 p.(R330∗) 0.50 0.46 GATA2-deficiency syndrome WT 46XX 9.5 1.2 148 ICUS
PV2274 23/F GATA2 c.1018-1G>A 0.56 0.54 GATA2-deficiency syndrome NPM1 NA 46XX 10.7 31 215 AML
PV1264 24/F GATA2 p.(R398W) 0.52 0.42 GATA2-deficiency syndrome STAG2 0.04 46XX 8.1 0.8 58 MDS-MLD
PV2661 45/M NF1 c.3113+2T>A 0.47 0.44 NF RAF1
TET2 		0.25
0.22		 45X;-Y (60) 8.4 2.2 184 CMML-0
PV2662 44/F PTPN11 p.(T468M) 0.51 0.51 NS WT 46XX 8.2 1.5 19 ICUS
PV2664 38/M RPS26 p.(M1?) 0.51 0.53 DBA WT 46XY 12.7 0.25 152 ICUS
PV1774 52/F RUNX1 p.(L56fs)∗ 0.50 NA RUNX1-related FPD WT 46XX 5.9 2.0 111 MDS/MPN-U
PV2117 24/F SBDS p.(K62∗)∗
SBDS c.258+2T>C∗ 		0.48
0.54		 0.40
0.52		 SDS WT 46XX 10.4 0.4 90 ICUS

ANC, absolute neutrophil count; CMML, chronic myelomonocytic leukemia; DBA, Diamond-Blackfan anemia; F, female; FA, Fanconi anemia; FPD, familial platelet disorder; Hb, hemoglobin concentration; M, male; MDS-EB, MDS with excess blasts; MDS-MLD, MDS with multilineage dysplasia; MDS/MPN-U, MDS/myeloproliferative neoplasm unclassifiable; NA, not available; NF, neurofibromatosis; NS, Noonan syndrome; Plt, platelet count; SCN, severe congenital neutropenia; S/D, syndrome/disorder; SDS, Shwachman-Diamond syndrome; VAF, variant allele frequency; WT, wild-type.

∗

FANCA p.(V372fs) variant was detected in an unaffected male (son), with VAF 0.43. GATA1 c.-19-2A>G variant was detected in an affected sibling, with VAF 0.50. RUNX1 p.(L56fs) variant was detected in an affected sibling, with VAF 0.54. SBDS p.(K62∗) and c.258+2T>C variants were detected in an affected sibling, with VAFs 0.48 and 0.40, respectively.