rs4072227

chr1-206784213-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_153758.5(IL19):c.-149+13135C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.89 in 152,212 control chromosomes in the GnomAD database, including 60,521 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 0.89 (60521 hom., cov: 31)
• Consequence: IL19 NM_153758.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.334

Genes affected

IL19 (HGNC:5990): (interleukin 19) The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008]

ACMG classification

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 = 0.927 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
IL19	NM_153758.5	c.-149+13135C>T		intron_variant		ENST00000659997.3
IL19	NM_001393490.1	c.-149+13383C>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
IL19	ENST00000659997.3	c.-149+13135C>T		intron_variant			NM_153758.5	P1
IL19	ENST00000656872.2	c.-149+13383C>T		intron_variant				P1
IL19	ENST00000662320.1	n.67+13383C>T		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.890 AC: 135343 AN: 152094 Hom.: 60494 Cov.: 31

Gnomad AFR AF: 0.833

Gnomad AMI AF: 0.991

Gnomad AMR AF: 0.860

Gnomad ASJ AF: 0.957

Gnomad EAS AF: 0.738

Gnomad SAS AF: 0.903

Gnomad FIN AF: 0.915

Gnomad MID AF: 0.915

Gnomad NFE AF: 0.933

Gnomad OTH AF: 0.897

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.890 AC: 135427 AN: 152212 Hom.: 60521 Cov.: 31 AF XY: 0.889 AC XY: 66154 AN XY: 74400

Gnomad4 AFR AF: 0.833

Gnomad4 AMR AF: 0.859

Gnomad4 ASJ AF: 0.957

Gnomad4 EAS AF: 0.738

Gnomad4 SAS AF: 0.903

Gnomad4 FIN AF: 0.915

Gnomad4 NFE AF: 0.933

Gnomad4 OTH AF: 0.897

Alfa AF: 0.925 Hom.: 85873

Bravo AF: 0.882

Asia WGS AF: 0.805 AC: 2802 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	1.0
Dann	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4072227; hg19: chr1-206957558;