5-135894564-G-T

Position:

• chr5-135894564-G-T

Variant summary

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

The NM_000590.2(IL9):​c.184-413C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.657 in 152,100 control chromosomes in the GnomAD database, including 33,324 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 0.66 (33324 hom., cov: 32)
• Consequence: IL9 NM_000590.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.47

Genes affected

IL9 (HGNC:6029): (interleukin 9) The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness. [provided by RefSeq, Jul 2008]

LOC124901074 (HGNC:):

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 = 0.756 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
IL9	NM_000590.2	c.184-413C>A		intron_variant		ENST00000274520.2
LOC124901074	XR_007058947.1	n.509-1134G>T		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
IL9	ENST00000274520.2	c.184-413C>A		intron_variant		1	NM_000590.2	P1

Frequencies

GnomAD3 genomes AF: 0.657 AC: 99876 AN: 151980 Hom.: 33298 Cov.: 32

Gnomad AFR AF: 0.763

Gnomad AMI AF: 0.629

Gnomad AMR AF: 0.650

Gnomad ASJ AF: 0.634

Gnomad EAS AF: 0.455

Gnomad SAS AF: 0.555

Gnomad FIN AF: 0.615

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.625

Gnomad OTH AF: 0.651

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

GnomAD4 genome AF: 0.657 AC: 99952 AN: 152100 Hom.: 33324 Cov.: 32 AF XY: 0.653 AC XY: 48570 AN XY: 74352

Gnomad4 AFR AF: 0.763

Gnomad4 AMR AF: 0.650

Gnomad4 ASJ AF: 0.634

Gnomad4 EAS AF: 0.455

Gnomad4 SAS AF: 0.554

Gnomad4 FIN AF: 0.615

Gnomad4 NFE AF: 0.625

Gnomad4 OTH AF: 0.645

Alfa AF: 0.623 Hom.: 39206

Bravo AF: 0.666

Asia WGS AF: 0.507 AC: 1761 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.17
DANN	Benign	0.30

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: rs31564; hg19: chr5-135230253;