Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000015(NAT2):c.857G>A(p.Gly286Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0413 in 152096 control chromosomes in the gnomAD Genomes database, including 227 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 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: 0.0413AC: 6284AN: 152096Hom.: 227Cov.: 33 GnomAD3 exomes AF: 0.0576AC: 13017AN: 226094Hom.: 682 AF XY: 0.0539AC XY: 6612AN XY: 122612 GnomAD4 exome AF: 0.0338AC: 48617AN: 1439998Hom.: 1463 AF XY: 0.0341AC XY: 24432AN XY: 715712
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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