rs848

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

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.18
Variant links:
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]
TH2LCRR (HGNC:40495): (T helper type 2 locus control region associated RNA)

Genome browser will be placed here

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
IL13NM_002188.3 linkuse as main transcriptc.*526A>C 3_prime_UTR_variant 4/4 ENST00000304506.7 NP_002179.2
IL13NM_001354991.2 linkuse as main transcriptc.*526A>C 3_prime_UTR_variant 5/5 NP_001341920.1
IL13NM_001354992.2 linkuse as main transcriptc.*526A>C 3_prime_UTR_variant 6/6 NP_001341921.1
IL13NM_001354993.2 linkuse as main transcriptc.*526A>C 3_prime_UTR_variant 5/5 NP_001341922.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
IL13ENST00000304506.7 linkuse as main transcriptc.*526A>C 3_prime_UTR_variant 4/41 NM_002188.3 ENSP00000304915 P1
TH2LCRRENST00000435042.1 linkuse as main transcriptn.94+3371T>G intron_variant, non_coding_transcript_variant 5

Frequencies

GnomAD3 genomes
AF:
0.678
AC:
102993
AN:
151830
Hom.:
36321
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.504
Gnomad AMI
AF:
0.874
Gnomad AMR
AF:
0.632
Gnomad ASJ
AF:
0.748
Gnomad EAS
AF:
0.675
Gnomad SAS
AF:
0.709
Gnomad FIN
AF:
0.611
Gnomad MID
AF:
0.753
Gnomad NFE
AF:
0.796
Gnomad OTH
AF:
0.718
GnomAD4 exome
AF:
0.721
AC:
4995
AN:
6932
Hom.:
1897
Cov.:
0
AF XY:
0.719
AC XY:
2635
AN XY:
3666
show subpopulations
Gnomad4 AFR exome
AF:
0.419
Gnomad4 AMR exome
AF:
0.534
Gnomad4 ASJ exome
AF:
0.840
Gnomad4 EAS exome
AF:
0.702
Gnomad4 SAS exome
AF:
0.735
Gnomad4 FIN exome
AF:
0.628
Gnomad4 NFE exome
AF:
0.822
Gnomad4 OTH exome
AF:
0.742
GnomAD4 genome
AF:
0.678
AC:
103020
AN:
151946
Hom.:
36320
Cov.:
31
AF XY:
0.671
AC XY:
49826
AN XY:
74242
show subpopulations
Gnomad4 AFR
AF:
0.503
Gnomad4 AMR
AF:
0.632
Gnomad4 ASJ
AF:
0.748
Gnomad4 EAS
AF:
0.675
Gnomad4 SAS
AF:
0.710
Gnomad4 FIN
AF:
0.611
Gnomad4 NFE
AF:
0.795
Gnomad4 OTH
AF:
0.719
Alfa
AF:
0.778
Hom.:
42234
Bravo
AF:
0.669
Asia WGS
AF:
0.665
AC:
2315
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.84
CADD
Benign
1.1
DANN
Benign
0.75

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs848; hg19: chr5-131996500; API