. 2022 Jul 2;151(10):1791–1803. doi: 10.1002/ijc.34162

TABLE 5.

Germline and somatic mutations identified in patients with persistent cytopenia and clonal hematopoiesis by analysis with the custom Myelo panel

ID	Germline mutations ^a					Somatic mutations ^a
ID	Gene	Type	VAF (%)	AA substitution	Variant annotation ^b	Gene	Type	VAF (%)	AA substitution	Variant annotation ^b	Gene classification ^c
1	BRCA1	INDEL	51.4	p.Leu1679TyrfsTer2	Pathogenic	IGFN1	SNV	17.9	p.Gly1565Asp	VUS	AML Driver
						NBEAL2	SNV	3.1	p.Leu1093Val	VUS	AML driver
						TP53	SNV	7.2	p.Cys238Tyr	Pathogenic	AML driver/susceptibility
2	BRCA1	INDEL	51.6	p.Asn363IlefsTer11	Pathogenic	EPHA4	SNV	2.5	p.Cys191Arg	VUS	Actionable
2	BRCA1	INDEL	51.6	p.Asn363IlefsTer11	Pathogenic	TP53	SNV	4.8	p.Cys176Ser	Pathogenic	AML driver/susceptibility
3	NONE					GNA11	SNV	3.2	p.Leu40Phe	Likely pathogenic	Actionable
4	BCR	INDEL	56.8	p.Lys754AsnfsTer34	Pathogenic	EPHB2	SNV	52.9	p.Gln626Arg	Likely pathogenic	Actionable
						NOTCH1	SNV	40.5	p.Thr2090Met	VUS	Actionable
						SLTM	SNV	52.2	p.Gln54Arg	Likely pathogenic	Actionable
						BRCA1	SNV	45.3	p.Arg1495Met	Pathogenic	Susceptibility/actionable
5	NONE					NOTCH1	SNV	3.2	p.Asn104Thr	VUS	Actionable

Abbreviations: AA, aminoacidic; AML, acute myeloid leukemia; INDEL, insertion/deletion; SNV, single nucleotide variant; VAF, variant allele frequency; VUS, variant of uncertain significance.

^{^a}

Next generation sequencing analysis using custom Myelo panel and the Ion Torrent S5 technology (ThermoFisher).

^{^b}

Annotation of variants for pathogenicity by ClinVar, Varsome, RENOVO.

^{^c}

Gene classification based on our gene lists in the customized Myelo panel; for definitions, see Section 2.3.