rs3819100
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000299964.4(NNMT):c.154+44T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.289 in 1,597,728 control chromosomes in the GnomAD database, including 69,466 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.26 ( 5596 hom., cov: 32)
Exomes 𝑓: 0.29 ( 63870 hom. )
Consequence
NNMT
ENST00000299964.4 intron
ENST00000299964.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.589
Genes affected
NNMT (HGNC:7861): (nicotinamide N-methyltransferase) N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.81).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.455 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NNMT | NM_006169.3 | c.154+44T>C | intron_variant | ENST00000299964.4 | NP_006160.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NNMT | ENST00000299964.4 | c.154+44T>C | intron_variant | 1 | NM_006169.3 | ENSP00000299964 | P1 | |||
ENST00000544925.1 | n.51-27265A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.261 AC: 39737AN: 152062Hom.: 5596 Cov.: 32
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GnomAD3 exomes AF: 0.310 AC: 76900AN: 248296Hom.: 12613 AF XY: 0.314 AC XY: 42055AN XY: 134058
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GnomAD4 exome AF: 0.292 AC: 421731AN: 1445548Hom.: 63870 Cov.: 26 AF XY: 0.295 AC XY: 212164AN XY: 719262
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GnomAD4 genome AF: 0.261 AC: 39734AN: 152180Hom.: 5596 Cov.: 32 AF XY: 0.266 AC XY: 19818AN XY: 74390
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at