. Author manuscript; available in PMC: 2019 Dec 5.

Published in final edited form as: Leukemia. 2019 Jun 17;33(8):1835–1850. doi: 10.1038/s41375-019-0512-y

Table 3.

Essential minimum information required for unambiguous identification of variants and for the evaluation of clinical relevance

Genomic	Example
Version of the human genome assembly	hg19/GRCh37 or hg38/GRCh38
Coordinates (chromosome and sequence location)	Chr17:7577538
mRNA transcript reference	NM_000546 or ENST00000269305
Sequence variant	TP53 p.R248Q, c.743G>A
Variant allele frequency	48%
Annotation
Version of in silico prediction models and other databases	CADD v1.3
Threshold values for assignment of deleteriousness	CADD score ≥20 and predicted to be damaging in 3 of 4 prediction algorithms
Population database minor allele frequency threshold (for inclusion of variant as probably somatic)	>0.1%
Patient information
Disease stage at time of testing	Diagnosis
Treatment	First line imatinib
Outcome	Blast crisis