Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000015(NAT2):c.803G>A(p.Arg268Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.602 in 151750 control chromosomes in the gnomAD Genomes database, including 28047 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. 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: 0.602AC: 91371AN: 151750Hom.: 28047Cov.: 31 GnomAD3 exomes AF: 0.619AC: 153259AN: 247584Hom.: 48818 AF XY: 0.617AC XY: 82695AN XY: 134048 GnomAD4 exome AF: 0.591AC: 862387AN: 1458914Hom.: 258400 AF XY: 0.592AC XY: 429292AN XY: 725744
ClinVarNot reported in
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