rs72554666

Variant names:

• chr8-18223111-AAATAATAATAATAATAATAATA-TAATAATAAT
• rs72554666
• NM_000662.8:c.*191_*213delAAATAATAATAATAATAATAATAinsTAATAATAAT

Your query was ambiguous. Multiple possible variants found:

• chr8-18223110-CAAATAATAATAATAATAATAATA-CTAATAATAAT
• chr8-18223110-CAAATAATAATAATAATAATAATA-CTAATAATAATAATAATAAT
• chr8-18223110-CAAATAATAATAATAATAATAATA-CTAATAATAATAATAATAATAAT

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_000662.8(NAT1):​c.*191_*213delAAATAATAATAATAATAATAATAinsTAATAATAAT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: NAT1 NM_000662.8 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.62
• Publications: 2 publications found

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]

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_000662.8. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	NAT1	NM_000662.8	MANE Select	c.*191_*213delAAATAATAATAATAATAATAATAinsTAATAATAAT		3_prime_UTR	Exon 3 of 3	NP_000653.3
	NAT1	NM_001160175.4		c.*191_*213delAAATAATAATAATAATAATAATAinsTAATAATAAT		3_prime_UTR	Exon 5 of 5	NP_001153647.1
	NAT1	NM_001160176.4		c.*191_*213delAAATAATAATAATAATAATAATAinsTAATAATAAT		3_prime_UTR	Exon 4 of 4	NP_001153648.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	NAT1	ENST00000307719.9	TSL:1 MANE Select	c.*191_*213delAAATAATAATAATAATAATAATAinsTAATAATAAT		3_prime_UTR	Exon 3 of 3	ENSP00000307218.4
	NAT1	ENST00000518029.5	TSL:1	c.*191_*213delAAATAATAATAATAATAATAATAinsTAATAATAAT		3_prime_UTR	Exon 4 of 4	ENSP00000428270.1
	NAT1	ENST00000545197.3	TSL:5	c.*191_*213delAAATAATAATAATAATAATAATAinsTAATAATAAT		3_prime_UTR	Exon 4 of 4	ENSP00000443194.1

Frequencies

GnomAD3 genomes Cov.: 32

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.6

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs72554666; hg19: chr8-18080620;