13-30733158-CAAAAAAA-CAAAAA

Position:

• chr13-30733158-CAAAAAAA-CAAAAA

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_001204406.2(ALOX5AP):​c.117-2376_117-2375delAA variant causes a intron 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 0.00062 (0 hom., cov: 0)
• Consequence: ALOX5AP NM_001204406.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.02

Genes affected

ALOX5AP (HGNC:436): (arachidonate 5-lipoxygenase activating protein) This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]

LOC124903146 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ALOX5AP	NM_001204406.2	c.117-2376_117-2375delAA		intron_variant			NP_001191335.1
LOC124903146	XR_007063743.1	n.221-423_221-422delTT		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ALOX5AP	ENST00000617770.4	c.117-2376_117-2375delAA		intron_variant		1		ENSP00000479870.1

Frequencies

GnomAD3 genomes AF: 0.000620 AC: 51 AN: 82242 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00113

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000713

Gnomad ASJ AF: 0.000499

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000716

Gnomad FIN AF: 0.00148

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000227

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.000620 AC: 51 AN: 82254 Hom.: 0 Cov.: 0 AF XY: 0.000672 AC XY: 26 AN XY: 38690

Gnomad4 AFR AF: 0.00113

Gnomad4 AMR AF: 0.000712

Gnomad4 ASJ AF: 0.000499

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.000719

Gnomad4 FIN AF: 0.00148

Gnomad4 NFE AF: 0.000227

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs34069656; hg19: chr13-31307295;