8-18400806-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000015.3(NAT2):c.803G>T(p.Arg268Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000659 in 151,828 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/19 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. R268K) has been classified as Likely benign.
Frequency
Consequence
NM_000015.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151828Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247584Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134048
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.85e-7 AC: 1AN: 1459684Hom.: 0 Cov.: 39 AF XY: 0.00 AC XY: 0AN XY: 726106
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151828Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74120
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at