NM_000015.3:c.282C>T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_000015.3(NAT2):c.282C>T(p.Tyr94Tyr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.331 in 1,612,606 control chromosomes in the GnomAD database, including 90,622 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_000015.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.360 AC: 54604AN: 151710Hom.: 10194 Cov.: 31
GnomAD3 exomes AF: 0.342 AC: 85599AN: 250306Hom.: 15264 AF XY: 0.344 AC XY: 46546AN XY: 135260
GnomAD4 exome AF: 0.328 AC: 479746AN: 1460778Hom.: 80426 Cov.: 39 AF XY: 0.331 AC XY: 240168AN XY: 726604
GnomAD4 genome AF: 0.360 AC: 54628AN: 151828Hom.: 10196 Cov.: 31 AF XY: 0.359 AC XY: 26637AN XY: 74218
ClinVar
Submissions by phenotype
NAT2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at