rs7213273

chr17-45078546-G-Achr17-45078546-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_021079.5(NMT1):c.132-3098G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.721 in 152,022 control chromosomes in the GnomAD database, including 40,596 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 0.72 (40596 hom., cov: 30)
• Consequence: NMT1 NM_021079.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.345

Genes affected

NMT1 (HGNC:7857): (N-myristoyltransferase 1) Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.887 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
NMT1	NM_021079.5	c.132-3098G>A		intron_variant		ENST00000258960.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
NMT1	ENST00000258960.7	c.132-3098G>A		intron_variant		1	NM_021079.5	P4

Frequencies

GnomAD3 genomes AF: 0.721 AC: 109552 AN: 151906 Hom.: 40543 Cov.: 30

Gnomad AFR AF: 0.895

Gnomad AMI AF: 0.594

Gnomad AMR AF: 0.711

Gnomad ASJ AF: 0.651

Gnomad EAS AF: 0.497

Gnomad SAS AF: 0.634

Gnomad FIN AF: 0.644

Gnomad MID AF: 0.706

Gnomad NFE AF: 0.659

Gnomad OTH AF: 0.695

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

GnomAD4 genome AF: 0.721 AC: 109657 AN: 152022 Hom.: 40596 Cov.: 30 AF XY: 0.716 AC XY: 53196 AN XY: 74280

Gnomad4 AFR AF: 0.895

Gnomad4 AMR AF: 0.711

Gnomad4 ASJ AF: 0.651

Gnomad4 EAS AF: 0.497

Gnomad4 SAS AF: 0.633

Gnomad4 FIN AF: 0.644

Gnomad4 NFE AF: 0.659

Gnomad4 OTH AF: 0.694

Alfa AF: 0.707 Hom.: 6910

Bravo AF: 0.731

Asia WGS AF: 0.609 AC: 2119 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
Cadd	Benign	0.72
Dann	Benign	0.50

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs7213273; hg19: chr17-43155914;