Identification of Two DNMT3A Mutations Compromising Protein Stability and Methylation Capacity in Acute Myeloid Leukemia

Table 1

Mutational profile of AML#1 at diagnosis and follow-up.

Pt	Gene	Locus	NM_ID	Exon	Type	Coding	Amino acid change	VAF (%)	Variant effect
AML#1Dx	DNMT3A	chr2:25462022	NM_022552.4	20	SNV	c.2385G > A	p.Trp795Ter	4.45	Nonsense
	TET2	chr4:106164773	NM_001127208.2	6	SNV	c.3641G > A	p.Arg1214Gln	3.20	Missense
	IDH2	chr15:90631837	NM_002168.3	4	SNV	c.515G > A	p.Arg172Lys	6.06	Missense
	BCOR	ChrX:39931683	NM_001123385.1	4	INDEL	c.2915_2916insA	p.Tyr972Ter	4.76	Nonsense
AML#1F-UP	DNMT3A	chr2:25462022	NM_022552.4	20	SNV	c.2385G > A	p.Trp795Ter	38.20	Nonsense
	IDH2	chr15:90631837	NM_002168.3	4	SNV	c.515G > A	p.Arg172Lys	39.80	Missense
	TP53	chr17:7578242	NM_000546.5	6	SNV	c.607G > A	p.Val203Met	5.25	Missense
	BCOR	chrX:39931683	NM_001123385.1	4	INDEL	c.2915_2916insA	p.Tyr972Ter	42.08	Nonsense

Pt: patient; Dx: diagnosis; F-UP: follow-up; SNV: single-nucleotide variant; INDEL: insertion/deletion; ins: insertion.