rs2495632

Positions:

• chrX-118786645-A-G
• chrX-118786645-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.1192-5117A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.292 in 111,022 control chromosomes in the GnomAD database, including 4,313 homozygotes. There are 9,757 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 0.29 (4313 hom., 9757 hem., cov: 23)
• Consequence: IL13RA1 NM_001560.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.96

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=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.477 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
IL13RA1	NM_001560.3	c.1192-5117A>G		intron_variant		ENST00000371666.8	NP_001551.1
IL13RA1	XM_047442096.1	c.1191+10134A>G		intron_variant			XP_047298052.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
IL13RA1	ENST00000371666.8	c.1192-5117A>G		intron_variant		1	NM_001560.3	ENSP00000360730	P1
IL13RA1	ENST00000652600.1	c.1186-5117A>G		intron_variant				ENSP00000498980

Frequencies

GnomAD3 genomes AF: 0.292 AC: 32420 AN: 110969 Hom.: 4313 Cov.: 23 AF XY: 0.293 AC XY: 9733 AN XY: 33245

Gnomad AFR AF: 0.483

Gnomad AMI AF: 0.0452

Gnomad AMR AF: 0.417

Gnomad ASJ AF: 0.252

Gnomad EAS AF: 0.446

Gnomad SAS AF: 0.319

Gnomad FIN AF: 0.195

Gnomad MID AF: 0.346

Gnomad NFE AF: 0.162

Gnomad OTH AF: 0.315

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

GnomAD4 genome AF: 0.292 AC: 32442 AN: 111022 Hom.: 4313 Cov.: 23 AF XY: 0.293 AC XY: 9757 AN XY: 33308

Gnomad4 AFR AF: 0.483

Gnomad4 AMR AF: 0.417

Gnomad4 ASJ AF: 0.252

Gnomad4 EAS AF: 0.447

Gnomad4 SAS AF: 0.318

Gnomad4 FIN AF: 0.195

Gnomad4 NFE AF: 0.162

Gnomad4 OTH AF: 0.316

Alfa AF: 0.241 Hom.: 1469

Bravo AF: 0.326

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.4
DANN	Benign	0.35

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: rs2495632; hg19: chrX-117920608;