rs10489628

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_144701.3(IL23R):​c.1045+1622G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.426 in 151,558 control chromosomes in the GnomAD database, including 14,319 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 0.43 ( 14319 hom., cov: 30)

Consequence

IL23R
NM_144701.3 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.17
Variant links:
Genes affected
IL23R (HGNC:19100): (interleukin 23 receptor) The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq, Jul 2008]

Genome browser will be placed here

ACMG classification

Classification made for transcript

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 = 0.521 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
IL23RNM_144701.3 linkuse as main transcriptc.1045+1622G>A intron_variant ENST00000347310.10 NP_653302.2 Q5VWK5-1
IL23RXM_011540790.4 linkuse as main transcriptc.1045+1622G>A intron_variant XP_011539092.1 Q5VWK5-1
IL23RXM_011540791.4 linkuse as main transcriptc.1045+1622G>A intron_variant XP_011539093.1 Q5VWK5-1
IL23RXM_047447227.1 linkuse as main transcriptc.1045+1622G>A intron_variant XP_047303183.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
IL23RENST00000347310.10 linkuse as main transcriptc.1045+1622G>A intron_variant 1 NM_144701.3 ENSP00000321345.5 Q5VWK5-1

Frequencies

GnomAD3 genomes
AF:
0.426
AC:
64513
AN:
151448
Hom.:
14306
Cov.:
30
show subpopulations
Gnomad AFR
AF:
0.527
Gnomad AMI
AF:
0.335
Gnomad AMR
AF:
0.478
Gnomad ASJ
AF:
0.333
Gnomad EAS
AF:
0.260
Gnomad SAS
AF:
0.265
Gnomad FIN
AF:
0.369
Gnomad MID
AF:
0.278
Gnomad NFE
AF:
0.393
Gnomad OTH
AF:
0.397
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.426
AC:
64572
AN:
151558
Hom.:
14319
Cov.:
30
AF XY:
0.422
AC XY:
31244
AN XY:
74024
show subpopulations
Gnomad4 AFR
AF:
0.527
Gnomad4 AMR
AF:
0.479
Gnomad4 ASJ
AF:
0.333
Gnomad4 EAS
AF:
0.260
Gnomad4 SAS
AF:
0.263
Gnomad4 FIN
AF:
0.369
Gnomad4 NFE
AF:
0.393
Gnomad4 OTH
AF:
0.397
Alfa
AF:
0.402
Hom.:
7495
Bravo
AF:
0.440
Asia WGS
AF:
0.335
AC:
1169
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
0.56
DANN
Benign
0.59

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

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs10489628; hg19: chr1-67704107; API