rs17238892
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_001629.4(ALOX5AP):c.242-1697_242-1696insAAG 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: not found (cov: 0)
Consequence
ALOX5AP
NM_001629.4 intron
NM_001629.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.521
Publications
0 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]
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ALOX5AP | NM_001629.4 | c.242-1697_242-1696insAAG | intron_variant | Intron 3 of 4 | ENST00000380490.5 | NP_001620.2 | ||
ALOX5AP | NM_001204406.2 | c.413-1697_413-1696insAAG | intron_variant | Intron 4 of 5 | NP_001191335.1 | |||
ALOX5AP | XM_017020522.3 | c.122-1697_122-1696insAAG | intron_variant | Intron 3 of 4 | XP_016876011.1 | |||
LOC124903146 | XR_007063743.1 | n.89+1265_89+1266insTCT | intron_variant | Intron 1 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ALOX5AP | ENST00000380490.5 | c.242-1699_242-1698insAGA | intron_variant | Intron 3 of 4 | 1 | NM_001629.4 | ENSP00000369858.3 | |||
ALOX5AP | ENST00000617770.4 | c.413-1699_413-1698insAGA | intron_variant | Intron 4 of 5 | 1 | ENSP00000479870.1 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 genomes
Cov.:
0
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome Cov.: 0
GnomAD4 genome
Cov.:
0
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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