rs729386

chr2-110948161-G-A

Variant summary

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

The NM_001142807.4(ACOXL):c.1059+14519G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.674 in 152,124 control chromosomes in the GnomAD database, including 34,795 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 0.67 (34795 hom., cov: 33)
• Consequence: ACOXL NM_001142807.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.188

Genes affected

ACOXL (HGNC:25621): (acyl-CoA oxidase like) Predicted to enable acyl-CoA oxidase activity; fatty acid binding activity; and flavin adenine dinucleotide binding activity. Predicted to be involved in fatty acid beta-oxidation using acyl-CoA oxidase and lipid homeostasis. Predicted to be located in peroxisomal matrix. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.772 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ACOXL	NM_001142807.4	c.1059+14519G>A		intron_variant		ENST00000439055.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ACOXL	ENST00000439055.6	c.1059+14519G>A		intron_variant		2	NM_001142807.4

Frequencies

GnomAD3 genomes AF: 0.674 AC: 102428 AN: 152006 Hom.: 34751 Cov.: 33

Gnomad AFR AF: 0.596

Gnomad AMI AF: 0.643

Gnomad AMR AF: 0.735

Gnomad ASJ AF: 0.739

Gnomad EAS AF: 0.793

Gnomad SAS AF: 0.772

Gnomad FIN AF: 0.688

Gnomad MID AF: 0.728

Gnomad NFE AF: 0.686

Gnomad OTH AF: 0.674

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

GnomAD4 genome AF: 0.674 AC: 102528 AN: 152124 Hom.: 34795 Cov.: 33 AF XY: 0.677 AC XY: 50355 AN XY: 74370

Gnomad4 AFR AF: 0.597

Gnomad4 AMR AF: 0.735

Gnomad4 ASJ AF: 0.739

Gnomad4 EAS AF: 0.792

Gnomad4 SAS AF: 0.771

Gnomad4 FIN AF: 0.688

Gnomad4 NFE AF: 0.686

Gnomad4 OTH AF: 0.674

Alfa AF: 0.691 Hom.: 18444

Bravo AF: 0.674

Asia WGS AF: 0.752 AC: 2618 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
Cadd	Benign	0.31
Dann	Benign	0.63

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: rs729386; hg19: chr2-111705738;