6-137004764-TAAAAAA-TAAAA

Variant names:

• chr6-137004764-TAA-T
• rs5880323
• NM_014432.4:c.725-6_725-5delTT

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NM_014432.4(IL20RA):​c.725-6_725-5delTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).

• Frequency:
  • Genomes: 𝑓 0.38 (12445 hom., cov: 0)
  • Exomes 𝑓: 0.42 (9676 hom.)
  • Failed GnomAD Quality Control
• Consequence: IL20RA NM_014432.4 splice_region, intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 1.60
• Publications: 2 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 -10 ACMG points.

• BP6: Variant 6-137004764-TAA-T is Benign according to our data. Variant chr6-137004764-TAA-T is described in ClinVar as Benign. ClinVar VariationId is 402973.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.747 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_014432.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	IL20RA	NM_014432.4	MANE Select	c.725-6_725-5delTT		splice_region intron	N/A	NP_055247.4
	IL20RA	NM_001278722.2		c.578-6_578-5delTT		splice_region intron	N/A	NP_001265651.2	Q9UHF4-3
	IL20RA	NM_001278723.3		c.392-6_392-5delTT		splice_region intron	N/A	NP_001265652.2	Q9UHF4-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	IL20RA	ENST00000316649.10	TSL:1 MANE Select	c.725-6_725-5delTT		splice_region intron	N/A	ENSP00000314976.5	Q9UHF4-1
	IL20RA	ENST00000367748.4	TSL:1	c.392-6_392-5delTT		splice_region intron	N/A	ENSP00000356722.1	Q9UHF4-2
	IL20RA	ENST00000878901.1		c.728-6_728-5delTT		splice_region intron	N/A	ENSP00000548960.1

Frequencies

GnomAD3 genomes AF: 0.381 AC: 55611 AN: 145974 Hom.: 12458 Cov.: 0

Gnomad AFR AF: 0.123

Gnomad AMI AF: 0.433

Gnomad AMR AF: 0.487

Gnomad ASJ AF: 0.514

Gnomad EAS AF: 0.768

Gnomad SAS AF: 0.490

Gnomad FIN AF: 0.550

Gnomad MID AF: 0.426

Gnomad NFE AF: 0.441

Gnomad OTH AF: 0.392

GnomAD2 exomes AF: 0.443 AC: 67230 AN: 151602 AF XY: 0.449

Gnomad AFR exome AF: 0.158

Gnomad AMR exome AF: 0.464

Gnomad ASJ exome AF: 0.450

Gnomad EAS exome AF: 0.522

Gnomad FIN exome AF: 0.492

Gnomad NFE exome AF: 0.462

Gnomad OTH exome AF: 0.443

GnomAD4 exome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.421 AC: 523531 AN: 1242372 Hom.: 9676 AF XY: 0.423 AC XY: 261743 AN XY: 618700

African (AFR) AF: 0.135 AC: 3722 AN: 27554

American (AMR) AF: 0.454 AC: 12637 AN: 27816

Ashkenazi Jewish (ASJ) AF: 0.436 AC: 9404 AN: 21590

East Asian (EAS) AF: 0.503 AC: 18319 AN: 36414

South Asian (SAS) AF: 0.438 AC: 30567 AN: 69804

European-Finnish (FIN) AF: 0.466 AC: 19659 AN: 42162

Middle Eastern (MID) AF: 0.417 AC: 1937 AN: 4648

European-Non Finnish (NFE) AF: 0.422 AC: 405777 AN: 960710

Other (OTH) AF: 0.416 AC: 21509 AN: 51674

GnomAD4 genome AF: 0.381 AC: 55582 AN: 146022 Hom.: 12445 Cov.: 0 AF XY: 0.392 AC XY: 27769 AN XY: 70872

African (AFR) AF: 0.123 AC: 4820 AN: 39254

American (AMR) AF: 0.486 AC: 7210 AN: 14838

Ashkenazi Jewish (ASJ) AF: 0.514 AC: 1768 AN: 3438

East Asian (EAS) AF: 0.768 AC: 3896 AN: 5076

South Asian (SAS) AF: 0.490 AC: 2269 AN: 4630

European-Finnish (FIN) AF: 0.550 AC: 4883 AN: 8874

Middle Eastern (MID) AF: 0.427 AC: 123 AN: 288

European-Non Finnish (NFE) AF: 0.441 AC: 29425 AN: 66688

Other (OTH) AF: 0.392 AC: 797 AN: 2032

Alfa AF: 0.00 Hom.: 0

ClinVar

ClinVar submissions

Significance: Benign

Revision: criteria provided, single submitter

Pathogenic	VUS	Benign	Condition
-	-	1	not specified (1)

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.6
Mutation Taster		=99/1	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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs5880323;

hg19: chr6-137325901;