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Table. 2.

Table 2 CHIP variants observed in our study population

Aβ group	Sex/age, yrs	Cognitive status	Gene and reference sequence	Coding DNA sequence and amino acid change	VAF (%)/total depth	COSMIC
Aβ group	Sex/age, yrs	Cognitive status	Gene and reference sequence	Coding DNA sequence and amino acid change	VAF (%)/total depth	No.	Hematologic malignancy case count^*
Aβ-positive	F/58	Dementia	DNMT3A NM_022552	c.1015-1G>A	4.5/1,549	None	None
	F/69	Dementia	DNMT3A NM_022552	c.2206C>T (p.Arg736Cys)	4.1/1,941	COSM231560	18
	M/72	MCI	PRPF8 NM_006445	c.6427C>T (p.Arg2143Cys)	8.5/1,735	None	None
	F/74	Dementia	TET2 NM_001127208	c.1588C>T (p.Gln530Ter)	4.6/1,602	COSM4383816	3
	F/77	SCD	DNMT3A NM_022552	c.1040T>A (p.Leu347Gln)	3.5/1,764	None	None
			JAK2 NM_004972	c.1849G>T (p.Val617Phe)	22.6/1,683	COSM12600	42,776
	F/79	Dementia	DNMT3A NM_022552	c.2478+1G>A	4.2/851	COSM4766079	1
	F/80	MCI	CBL NM_005188	c.1253T>C (p.Phe418Ser)	3.3/2,000	COSM34070	8
Aβ-negative	M/73	Dementia	KMT2A NM_001197104	c.2329T>G (p.Ser777Ala)	3.3/1,997	None	None
	F/80	MCI	DNMT3A NM_022552	c.1851+1G>A	4.4/1,477	COSM5878805	1
				c.2311C>T (p.Arg771Ter)	3.2/1,811	COSM231563	15

*Counts in the hematopoietic and lymphoid tissue category in COSMIC.

Abbreviations: Aβ, β-amyloid; VAF, variant allele frequency; CHIP, Clonal hematopoiesis of indeterminate potential; COSMIC, Catalogue of Somatic Mutations in Cancer; F, female; M, male; MCI, mild cognitive impairment; SCD, subjective cognitive decline.

Ann Lab Med 2024;44:576~580 https://doi.org/10.3343/alm.2024.0086