13-30760245-A-G

Variant names:

• chr13-30760245-A-G
• rs9508834
• NM_001629.4:c.324-3699A>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001629.4(ALOX5AP):​c.324-3699A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.235 in 141,802 control chromosomes in the GnomAD database, including 3,757 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 0.23 (3757 hom., cov: 27)
• Consequence: ALOX5AP NM_001629.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0430
• Publications: 2 publications found

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]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.308 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001629.4. 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
	ALOX5AP	NM_001629.4	MANE Select	c.324-3699A>G		intron	N/A	NP_001620.2
	ALOX5AP	NM_001204406.2		c.495-3699A>G		intron	N/A	NP_001191335.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ALOX5AP	ENST00000380490.5	TSL:1 MANE Select	c.324-3699A>G		intron	N/A	ENSP00000369858.3
	ALOX5AP	ENST00000617770.4	TSL:1	c.495-3699A>G		intron	N/A	ENSP00000479870.1

Frequencies

GnomAD3 genomes AF: 0.235 AC: 33270 AN: 141728 Hom.: 3760 Cov.: 27

Gnomad AFR AF: 0.291

Gnomad AMI AF: 0.152

Gnomad AMR AF: 0.171

Gnomad ASJ AF: 0.199

Gnomad EAS AF: 0.242

Gnomad SAS AF: 0.324

Gnomad FIN AF: 0.219

Gnomad MID AF: 0.209

Gnomad NFE AF: 0.214

Gnomad OTH AF: 0.216

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

GnomAD4 genome AF: 0.235 AC: 33272 AN: 141802 Hom.: 3757 Cov.: 27 AF XY: 0.237 AC XY: 16267 AN XY: 68586

African (AFR) AF: 0.291 AC: 11331 AN: 38968

American (AMR) AF: 0.171 AC: 2385 AN: 13982

Ashkenazi Jewish (ASJ) AF: 0.199 AC: 665 AN: 3340

East Asian (EAS) AF: 0.242 AC: 1044 AN: 4306

South Asian (SAS) AF: 0.322 AC: 1360 AN: 4220

European-Finnish (FIN) AF: 0.219 AC: 1948 AN: 8890

Middle Eastern (MID) AF: 0.211 AC: 60 AN: 284

European-Non Finnish (NFE) AF: 0.214 AC: 13916 AN: 64958

Other (OTH) AF: 0.217 AC: 432 AN: 1992

Alfa AF: 0.208 Hom.: 6081

Bravo AF: 0.219

Asia WGS AF: 0.256 AC: 894 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.1
DANN	Benign	0.82
PhyloP100		0.043
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs9508834; hg19: chr13-31334382;