rs2201841

chr1-67228519-A-Gchr1-67228519-A-T

Variant summary

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

The NM_144701.3(IL23R):c.956-8194A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.285 in 151,464 control chromosomes in the GnomAD database, including 7,312 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 0.29 (7312 hom., cov: 29)
• Consequence: IL23R NM_144701.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.347

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]

C1orf141 (HGNC:32044): (chromosome 1 open reading frame 141)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.705 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
IL23R	NM_144701.3	c.956-8194A>G		intron_variant		ENST00000347310.10
IL23R	XM_011540790.4	c.956-8194A>G		intron_variant
IL23R	XM_011540791.4	c.956-8194A>G		intron_variant
IL23R	XM_047447227.1	c.956-8194A>G		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
IL23R	ENST00000347310.10	c.956-8194A>G		intron_variant		1	NM_144701.3	P1

Frequencies

GnomAD3 genomes AF: 0.285 AC: 43206 AN: 151346 Hom.: 7304 Cov.: 29

Gnomad AFR AF: 0.163

Gnomad AMI AF: 0.310

Gnomad AMR AF: 0.266

Gnomad ASJ AF: 0.338

Gnomad EAS AF: 0.724

Gnomad SAS AF: 0.585

Gnomad FIN AF: 0.294

Gnomad MID AF: 0.446

Gnomad NFE AF: 0.304

Gnomad OTH AF: 0.308

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

GnomAD4 genome AF: 0.285 AC: 43236 AN: 151464 Hom.: 7312 Cov.: 29 AF XY: 0.292 AC XY: 21573 AN XY: 74000

Gnomad4 AFR AF: 0.164

Gnomad4 AMR AF: 0.266

Gnomad4 ASJ AF: 0.338

Gnomad4 EAS AF: 0.724

Gnomad4 SAS AF: 0.587

Gnomad4 FIN AF: 0.294

Gnomad4 NFE AF: 0.304

Gnomad4 OTH AF: 0.311

Alfa AF: 0.319 Hom.: 18263

Bravo AF: 0.275

Asia WGS AF: 0.579 AC: 2007 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	5.7
DANN	Benign	0.78

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: rs2201841; hg19: chr1-67694202;