rs11465955
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_007199.3(IRAK3):c.381+99C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.248 in 804,198 control chromosomes in the GnomAD database, including 26,649 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 0.22 ( 4259 hom., cov: 32)
Exomes 𝑓: 0.25 ( 22390 hom. )
Consequence
IRAK3
NM_007199.3 intron
NM_007199.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.765
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 -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.286 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IRAK3 | NM_007199.3 | c.381+99C>T | intron_variant | ENST00000261233.9 | |||
IRAK3 | NM_001142523.2 | c.198+99C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IRAK3 | ENST00000261233.9 | c.381+99C>T | intron_variant | 1 | NM_007199.3 | P1 | |||
IRAK3 | ENST00000457197.2 | c.198+99C>T | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.220 AC: 33432AN: 151888Hom.: 4256 Cov.: 32
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GnomAD4 exome AF: 0.255 AC: 166235AN: 652192Hom.: 22390 AF XY: 0.256 AC XY: 90234AN XY: 351968
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GnomAD4 genome ? AF: 0.220 AC: 33430AN: 152006Hom.: 4259 Cov.: 32 AF XY: 0.219 AC XY: 16233AN XY: 74278
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at