rs8190866
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The 8-18223693-CT-C variant causes a downstream gene change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.063 ( 390 hom., cov: 31)
Exomes 𝑓: 0.098 ( 22 hom. )
Failed GnomAD Quality Control
Consequence
NAT1
NM_000662.8 downstream_gene
NM_000662.8 downstream_gene
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.717
Genes affected
NAT1 (HGNC:7645): (N-acetyltransferase 1) This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NAT1 | NM_000662.8 | downstream_gene_variant | ENST00000307719.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NAT1 | ENST00000307719.9 | downstream_gene_variant | 1 | NM_000662.8 | P1 | ||||
NAT1 | ENST00000518029.5 | downstream_gene_variant | 1 | P1 | |||||
NAT1 | ENST00000517492.5 | downstream_gene_variant | 2 | P1 | |||||
NAT1 | ENST00000545197.3 | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 9559AN: 150336Hom.: 392 Cov.: 31 FAILED QC
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GnomAD4 exome AF: 0.0975 AC: 883AN: 9052Hom.: 22 Cov.: 0 AF XY: 0.101 AC XY: 444AN XY: 4412
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GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.0635 AC: 9550AN: 150454Hom.: 390 Cov.: 31 AF XY: 0.0649 AC XY: 4758AN XY: 73348
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at