rs78503618
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_007199.3(IRAK3):c.133+1841_133+1853del variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.244 in 152,034 control chromosomes in the GnomAD database, including 4,910 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.24 ( 4910 hom., cov: 23)
Consequence
IRAK3
NM_007199.3 intron
NM_007199.3 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.69
Genes affected
IRAK3 (HGNC:17020): (interleukin 1 receptor associated kinase 3) This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.304 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IRAK3 | NM_007199.3 | c.133+1841_133+1853del | intron_variant | ENST00000261233.9 | |||
IRAK3 | NM_001142523.2 | c.133+1841_133+1853del | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IRAK3 | ENST00000261233.9 | c.133+1841_133+1853del | intron_variant | 1 | NM_007199.3 | P1 | |||
IRAK3 | ENST00000545837.1 | c.133+1841_133+1853del | intron_variant | 1 | |||||
IRAK3 | ENST00000457197.2 | c.133+1841_133+1853del | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.244 AC: 37064AN: 151916Hom.: 4914 Cov.: 23
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.244 AC: 37051AN: 152034Hom.: 4910 Cov.: 23 AF XY: 0.244 AC XY: 18099AN XY: 74318
GnomAD4 genome
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18099
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930
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3478
ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at