1-206775208-G-T

Variant names:

• chr1-206775208-G-T
• rs6693899
• NM_153758.5:c.-149+4130G>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_153758.5(IL19):​c.-149+4130G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.335 in 151,454 control chromosomes in the GnomAD database, including 8,956 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 0.33 (8956 hom., cov: 30)
• Consequence: IL19 NM_153758.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.696
• Publications: 21 publications found

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

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.367 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
IL19	NM_153758.5	c.-149+4130G>T		intron_variant	Intron 1 of 6	ENST00000659997.3	NP_715639.2
IL19	NM_001393490.1	c.-149+4378G>T		intron_variant	Intron 1 of 6		NP_001380419.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
IL19	ENST00000659997.3	c.-149+4130G>T		intron_variant	Intron 1 of 6		NM_153758.5	ENSP00000499459.2
IL19	ENST00000656872.2	c.-149+4378G>T		intron_variant	Intron 1 of 6			ENSP00000499487.2
IL19	ENST00000662320.1	n.67+4378G>T		intron_variant	Intron 1 of 2

Frequencies

GnomAD3 genomes AF: 0.335 AC: 50659 AN: 151336 Hom.: 8938 Cov.: 30

Gnomad AFR AF: 0.372

Gnomad AMI AF: 0.418

Gnomad AMR AF: 0.234

Gnomad ASJ AF: 0.308

Gnomad EAS AF: 0.0517

Gnomad SAS AF: 0.225

Gnomad FIN AF: 0.336

Gnomad MID AF: 0.250

Gnomad NFE AF: 0.366

Gnomad OTH AF: 0.307

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

GnomAD4 genome AF: 0.335 AC: 50719 AN: 151454 Hom.: 8956 Cov.: 30 AF XY: 0.328 AC XY: 24310 AN XY: 74036

African (AFR) AF: 0.372 AC: 15354 AN: 41268

American (AMR) AF: 0.234 AC: 3561 AN: 15222

Ashkenazi Jewish (ASJ) AF: 0.308 AC: 1063 AN: 3456

East Asian (EAS) AF: 0.0517 AC: 266 AN: 5148

South Asian (SAS) AF: 0.224 AC: 1078 AN: 4808

European-Finnish (FIN) AF: 0.336 AC: 3529 AN: 10494

Middle Eastern (MID) AF: 0.252 AC: 74 AN: 294

European-Non Finnish (NFE) AF: 0.365 AC: 24762 AN: 67754

Other (OTH) AF: 0.310 AC: 653 AN: 2104

Alfa AF: 0.137 Hom.: 239

Bravo AF: 0.331

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.15
DANN	Benign	0.22
PhyloP100		-0.70

Splicing

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

Other links and lift over

dbSNP: rs6693899; hg19: chr1-206948553;