rs2250747

chrX-118729785-A-GchrX-118729785-A-T

Variant summary

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

The NM_001560.3(IL13RA1):c.88+2059A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.171 in 111,652 control chromosomes in the GnomAD database, including 1,489 homozygotes. There are 6,052 hemizygotes in GnomAD. 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 0.17 (1489 hom., 6052 hem., cov: 23)
• Consequence: IL13RA1 NM_001560.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.751

Genes affected

IL13RA1 (HGNC:5974): (interleukin 13 receptor subunit alpha 1) The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.389 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
IL13RA1	NM_001560.3	c.88+2059A>G		intron_variant		ENST00000371666.8
IL13RA1	XM_047442096.1	c.88+2059A>G		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
IL13RA1	ENST00000371666.8	c.88+2059A>G		intron_variant		1	NM_001560.3	P1
IL13RA1	ENST00000371642.1	c.88+2059A>G		intron_variant		1
IL13RA1	ENST00000652600.1	c.-1+2423A>G		intron_variant

Frequencies

GnomAD3 genomes AF: 0.171 AC: 19106 AN: 111600 Hom.: 1490 Cov.: 23 AF XY: 0.179 AC XY: 6043 AN XY: 33768

Gnomad AFR AF: 0.0717

Gnomad AMI AF: 0.0453

Gnomad AMR AF: 0.353

Gnomad ASJ AF: 0.249

Gnomad EAS AF: 0.406

Gnomad SAS AF: 0.309

Gnomad FIN AF: 0.196

Gnomad MID AF: 0.285

Gnomad NFE AF: 0.164

Gnomad OTH AF: 0.211

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

GnomAD4 genome AF: 0.171 AC: 19108 AN: 111652 Hom.: 1489 Cov.: 23 AF XY: 0.179 AC XY: 6052 AN XY: 33830

Gnomad4 AFR AF: 0.0716

Gnomad4 AMR AF: 0.352

Gnomad4 ASJ AF: 0.249

Gnomad4 EAS AF: 0.407

Gnomad4 SAS AF: 0.309

Gnomad4 FIN AF: 0.196

Gnomad4 NFE AF: 0.164

Gnomad4 OTH AF: 0.214

Alfa AF: 0.173 Hom.: 1723

Bravo AF: 0.185

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
Cadd	Benign	0.14
Dann	Benign	0.67

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: rs2250747; hg19: chrX-117863748;