rs4075131

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_001629.4(ALOX5AP):​c.70+1107A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.297 in 152,112 control chromosomes in the GnomAD database, including 7,054 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 0.30 ( 7054 hom., cov: 33)

Consequence

ALOX5AP
NM_001629.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.252
Variant links:
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]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.376 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
ALOX5APNM_001629.4 linkuse as main transcriptc.70+1107A>G intron_variant ENST00000380490.5 NP_001620.2
LOC124903146XR_007063743.1 linkuse as main transcriptn.221-4045T>C intron_variant, non_coding_transcript_variant
ALOX5APNM_001204406.2 linkuse as main transcriptc.241+1107A>G intron_variant NP_001191335.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ALOX5APENST00000380490.5 linkuse as main transcriptc.70+1107A>G intron_variant 1 NM_001629.4 ENSP00000369858 P1
ALOX5APENST00000617770.4 linkuse as main transcriptc.241+1107A>G intron_variant 1 ENSP00000479870

Frequencies

GnomAD3 genomes
AF:
0.297
AC:
45130
AN:
151994
Hom.:
7043
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.381
Gnomad AMI
AF:
0.476
Gnomad AMR
AF:
0.326
Gnomad ASJ
AF:
0.262
Gnomad EAS
AF:
0.351
Gnomad SAS
AF:
0.251
Gnomad FIN
AF:
0.252
Gnomad MID
AF:
0.285
Gnomad NFE
AF:
0.245
Gnomad OTH
AF:
0.291
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.297
AC:
45163
AN:
152112
Hom.:
7054
Cov.:
33
AF XY:
0.298
AC XY:
22163
AN XY:
74342
show subpopulations
Gnomad4 AFR
AF:
0.381
Gnomad4 AMR
AF:
0.327
Gnomad4 ASJ
AF:
0.262
Gnomad4 EAS
AF:
0.350
Gnomad4 SAS
AF:
0.249
Gnomad4 FIN
AF:
0.252
Gnomad4 NFE
AF:
0.245
Gnomad4 OTH
AF:
0.287
Alfa
AF:
0.257
Hom.:
6922
Bravo
AF:
0.310
Asia WGS
AF:
0.301
AC:
1049
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.87
CADD
Benign
0.56
DANN
Benign
0.46

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

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs4075131; hg19: chr13-31310919; API