rs1555001
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001376923.1(IL32):c.16-24T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.331 in 1,397,976 control chromosomes in the GnomAD database, including 81,628 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 0.31 ( 7669 hom., cov: 29)
Exomes 𝑓: 0.33 ( 73959 hom. )
Consequence
IL32
NM_001376923.1 intron
NM_001376923.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.115
Genes affected
IL32 (HGNC:16830): (interleukin 32) This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
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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=-0.83).
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.585 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL32 | NM_001376923.1 | c.16-24T>A | intron_variant | ENST00000525643.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL32 | ENST00000525643.7 | c.16-24T>A | intron_variant | 1 | NM_001376923.1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.306 AC: 46066AN: 150512Hom.: 7670 Cov.: 29
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GnomAD3 exomes AF: 0.361 AC: 66992AN: 185498Hom.: 13236 AF XY: 0.365 AC XY: 35628AN XY: 97626
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GnomAD4 exome AF: 0.334 AC: 416028AN: 1247342Hom.: 73959 Cov.: 18 AF XY: 0.340 AC XY: 210359AN XY: 618406
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GnomAD4 genome ? AF: 0.306 AC: 46081AN: 150634Hom.: 7669 Cov.: 29 AF XY: 0.314 AC XY: 23076AN XY: 73378
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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Details are displayed if max score is > 0.2
DS_AG_spliceai
Position offset: 2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at