Table 2. Characteristics of patients... | American Society of Hematology

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
Patient ID	Age/sex	Germ line gene mutation	VAF myeloid	VAF Germ line	Congenital S/D	Mutated gene	VAF	Cytogenetics (% abnormal metaphases)	Hb g/dl	ANC, ×10⁹/L	Plt, ×10⁹/L	Diagnosis
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

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
Patient ID	Age/sex	Germ line gene mutation	VAF myeloid	VAF Germ line	Congenital S/D	Mutated gene	VAF	Cytogenetics (% abnormal metaphases)	Hb g/dl	ANC, ×10⁹/L	Plt, ×10⁹/L	Diagnosis
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.

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