Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000015.3(NAT2):c.590G>A(p.Arg197Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.273 in 151716 control chromosomes in the gnomAD Genomes database, including 5835 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as drug response (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.273AC: 41457AN: 151716Hom.: 5835Cov.: 31 GnomAD3 exomes AF: 0.273AC: 68188AN: 249910Hom.: 9856 AF XY: 0.282AC XY: 38067AN XY: 135124 GnomAD4 exome AF: 0.289AC: 422623AN: 1460740Hom.: 62400 AF XY: 0.292AC XY: 212083AN XY: 726624
Submissions by phenotype
Slow acetylator due to N-acetyltransferase enzyme variant
|drug response, no assertion criteria provided||literature only||OMIM||Oct 28, 2012||- -|
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