rs12044804

chr1-206815188-A-Gchr1-206815188-A-T

Variant summary

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

The NM_153758.5(IL19):c.-3+16182A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.514 in 151,960 control chromosomes in the GnomAD database, including 20,512 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 0.51 (20512 hom., cov: 31)
• Consequence: IL19 NM_153758.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.324

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=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.865 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
IL19	NM_153758.5	c.-3+16182A>G		intron_variant		ENST00000659997.3
IL19	NM_001393490.1	c.-3+16182A>G		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
IL19	ENST00000659997.3	c.-3+16182A>G		intron_variant			NM_153758.5	P1
IL19	ENST00000656872.2	c.-3+16182A>G		intron_variant				P1
IL19	ENST00000662320.1	n.214-10302A>G		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.514 AC: 78082 AN: 151842 Hom.: 20491 Cov.: 31

Gnomad AFR AF: 0.501

Gnomad AMI AF: 0.480

Gnomad AMR AF: 0.558

Gnomad ASJ AF: 0.428

Gnomad EAS AF: 0.886

Gnomad SAS AF: 0.392

Gnomad FIN AF: 0.474

Gnomad MID AF: 0.402

Gnomad NFE AF: 0.505

Gnomad OTH AF: 0.493

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

GnomAD4 genome AF: 0.514 AC: 78137 AN: 151960 Hom.: 20512 Cov.: 31 AF XY: 0.515 AC XY: 38266 AN XY: 74270

Gnomad4 AFR AF: 0.501

Gnomad4 AMR AF: 0.558

Gnomad4 ASJ AF: 0.428

Gnomad4 EAS AF: 0.886

Gnomad4 SAS AF: 0.393

Gnomad4 FIN AF: 0.474

Gnomad4 NFE AF: 0.505

Gnomad4 OTH AF: 0.488

Alfa AF: 0.497 Hom.: 25280

Bravo AF: 0.523

Asia WGS AF: 0.591 AC: 2057 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
Cadd	Benign	2.4
Dann	Benign	0.68

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

Other links and lift over

dbSNP: rs12044804; hg19: chr1-206988533;