rs967906

Variant names:

• chr6-137004252-C-T
• rs967906
• NM_014432.4:c.864+369G>A

Variant summary

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

The NM_014432.4(IL20RA):​c.864+369G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.862 in 148,348 control chromosomes in the GnomAD database, including 58,331 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 0.86 (58331 hom., cov: 21)
• Consequence: IL20RA NM_014432.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.305
• Publications: 1 publications found

Genes affected

IL20RA (HGNC:6003): (interleukin 20 receptor subunit alpha) This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.989 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
IL20RA	NM_014432.4	c.864+369G>A		intron_variant	Intron 6 of 6	ENST00000316649.10	NP_055247.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
IL20RA	ENST00000316649.10	c.864+369G>A		intron_variant	Intron 6 of 6	1	NM_014432.4	ENSP00000314976.5
IL20RA	ENST00000367748.4	c.531+369G>A		intron_variant	Intron 5 of 5	1		ENSP00000356722.1
IL20RA	ENST00000541547.5	c.717+369G>A		intron_variant	Intron 6 of 6	2		ENSP00000437843.1

Frequencies

GnomAD3 genomes AF: 0.862 AC: 127782 AN: 148236 Hom.: 58333 Cov.: 21

Gnomad AFR AF: 0.520

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.942

Gnomad ASJ AF: 0.977

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.997

Gnomad FIN AF: 1.00

Gnomad MID AF: 0.953

Gnomad NFE AF: 0.996

Gnomad OTH AF: 0.882

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

GnomAD4 genome AF: 0.862 AC: 127804 AN: 148348 Hom.: 58331 Cov.: 21 AF XY: 0.865 AC XY: 62392 AN XY: 72162

African (AFR) AF: 0.519 AC: 20562 AN: 39600

American (AMR) AF: 0.942 AC: 13971 AN: 14834

Ashkenazi Jewish (ASJ) AF: 0.977 AC: 3383 AN: 3462

East Asian (EAS) AF: 0.999 AC: 4974 AN: 4978

South Asian (SAS) AF: 0.997 AC: 4637 AN: 4650

European-Finnish (FIN) AF: 1.00 AC: 9951 AN: 9952

Middle Eastern (MID) AF: 0.959 AC: 282 AN: 294

European-Non Finnish (NFE) AF: 0.996 AC: 67351 AN: 67636

Other (OTH) AF: 0.878 AC: 1795 AN: 2044

Alfa AF: 0.915 Hom.: 8210

Bravo AF: 0.840

Asia WGS AF: 0.935 AC: 3253 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.89
DANN	Benign	0.25
PhyloP100		0.30
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs967906; hg19: chr6-137325389;