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NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) AND IL36RN-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 15, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003415734.5

Allele description

NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)

Gene:
IL36RN:interleukin 36 receptor antagonist [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q14.1
Genomic location:
Preferred name:
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
HGVS:
  • NC_000002.12:g.113062547C>T
  • NG_031864.1:g.8910C>T
  • NM_012275.3:c.338C>TMANE SELECT
  • NM_173170.1:c.338C>T
  • NP_036407.1:p.Ser113Leu
  • NP_036407.1:p.Ser113Leu
  • NP_775262.1:p.Ser113Leu
  • LRG_730t1:c.338C>T
  • LRG_730t2:c.338C>T
  • LRG_730:g.8910C>T
  • LRG_730p1:p.Ser113Leu
  • LRG_730p2:p.Ser113Leu
  • NC_000002.11:g.113820124C>T
  • NM_012275.2:c.338C>T
  • Q9UBH0:p.Ser113Leu
Protein change:
S113L; SER113LEU
Links:
UniProtKB: Q9UBH0#VAR_066648; OMIM: 605507.0002; dbSNP: rs144478519
NCBI 1000 Genomes Browser:
rs144478519
Molecular consequence:
  • NM_012275.3:c.338C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173170.1:c.338C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
IL36RN-related disorder
Synonyms:
IL36RN-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004115457PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 15, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004115457.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The IL36RN c.338C>T variant is predicted to result in the amino acid substitution p.Ser113Leu. This variant has been reported in the homozygous and compound heterozygous states in individuals with generalized pustular psoriasis, palmarplantar pustulosis, and acrodermatitis continua of Hallopeau (Onoufriadis et al. 2011. PubMed ID: 21839423; Abbas et al. 2013. PubMed ID: 23428889; Setta-Kaffetzi et al. 2013. PubMed ID: 23303454). This variant was also identified in the heterozygous state in several individuals with generalized pustular psoriasis or palmarplantar pustulosis, suggesting that the p.Ser113Leu allele may have pathogenic potential even in the heterozygous state (Setta-Kaffetzi et al. 2013. PubMed ID: 23303454). Of note, this variant was also identified in the heterozygous state in one individual in a control cohort (Onoufriadis et al. 2011. PubMed ID: 21839423) and is reported in ~0.66% of alleles in individuals of European (Finnish) descent in gnomAD, which may be too frequent to cause disease in an autosomal dominant manner. Functional studies have shown that the p.Ser113Leu allele alters IL36RN protein expression and function (Tauber et al. 2016. PubMed ID: 27220475). Taken together, we interpret this variant as likely pathogenic for autosomal recessive disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024