Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report

Table 1 Detailed information of the identified variant in the ATCAY gene

Gene	Variant Coordinates	Zygosity	Allele Frequencies^a	Type and Classification^b	ACMG rules	Average coverage	%Target bp covered^c
ATCAY	Chr19(hg38):g3913774 NM_033064.5:c.883_884del p.(Lys295AspfsTer52) Exon 9/13	Homozygous	gnomAD: NA ExAC: NA Iranome: NA	Frameshift deletion Pathogenic (Class 1)	PVS1 PM2 PP3	86.64	0X: 1.57 1X: 98.43 2X: 98.26 10X: 97.18 20X: 94.93 50X: 75.68

^aGenome Aggregation Database (gnomAD) Genome version:3.0, Exome Aggregation Consortium (ExAC) version:1.0 and Iranome ^bVariant classification is based on ACMG recommendations: Class 1: Pathogenic, Class 2: Likely pathogenic, Class 3: Variant of uncertain significance (VUS), Class 4: Likely benign, Class 5: Benign ^c% Target bp Covered: the percentage of the covered target sequences based on the Agilent SureSelect Human All Exon V7 Kit. 0X: the percentage of the nucleotides with 0 coverage, 1X: the percentage of the nucleotides with 1 coverage and more, 2X: the percentage of the nucleotides with 2 coverage and more, 10X: the percentage of the nucleotides with 10 coverage and more, 20X: the percentage of the nucleotides with 20 coverage and more, 50X: the percentage of the nucleotides with 50 coverage and more

ISSN: 1755-8794