rs848
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000304506.7(IL13):c.*526A>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.68 in 158,878 control chromosomes in the GnomAD database, including 38,217 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 0.68 ( 36320 hom., cov: 31)
Exomes 𝑓: 0.72 ( 1897 hom. )
Consequence
IL13
ENST00000304506.7 3_prime_UTR
ENST00000304506.7 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.18
Genes affected
IL13 (HGNC:5973): (interleukin 13) This gene encodes an immunoregulatory cytokine produced primarily by activated Th2 cells. This cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, IL3, IL5, IL4, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL4. [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=-0.84).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.79 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL13 | NM_002188.3 | c.*526A>C | 3_prime_UTR_variant | 4/4 | ENST00000304506.7 | NP_002179.2 | ||
IL13 | NM_001354991.2 | c.*526A>C | 3_prime_UTR_variant | 5/5 | NP_001341920.1 | |||
IL13 | NM_001354992.2 | c.*526A>C | 3_prime_UTR_variant | 6/6 | NP_001341921.1 | |||
IL13 | NM_001354993.2 | c.*526A>C | 3_prime_UTR_variant | 5/5 | NP_001341922.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL13 | ENST00000304506.7 | c.*526A>C | 3_prime_UTR_variant | 4/4 | 1 | NM_002188.3 | ENSP00000304915 | P1 | ||
TH2LCRR | ENST00000435042.1 | n.94+3371T>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.678 AC: 102993AN: 151830Hom.: 36321 Cov.: 31
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GnomAD4 exome AF: 0.721 AC: 4995AN: 6932Hom.: 1897 Cov.: 0 AF XY: 0.719 AC XY: 2635AN XY: 3666
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GnomAD4 genome AF: 0.678 AC: 103020AN: 151946Hom.: 36320 Cov.: 31 AF XY: 0.671 AC XY: 49826AN XY: 74242
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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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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at