NM_173842.3(IL1RN):c.*537G>A AND Sterile multifocal osteomyelitis with periostitis and pustulosis

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001129690.4

Allele description [Variation Report for NM_173842.3(IL1RN):c.*537G>A]

NM_173842.3(IL1RN):c.*537G>A

Gene:

IL1RN:interleukin 1 receptor antagonist [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.1

Genomic location:

Preferred name:

NM_173842.3(IL1RN):c.*537G>A

HGVS:

NC_000002.12:g.113133408G>A
NG_021240.1:g.20516G>A
NM_000577.5:c.*537G>A
NM_001318914.2:c.*537G>A
NM_001379360.1:c.*537G>A
NM_173841.3:c.*537G>A
NM_173842.3:c.*537G>AMANE SELECT
NM_173843.3:c.*537G>A
LRG_188t1:c.*537G>A
LRG_188:g.20516G>A
NC_000002.11:g.113890985G>A
NM_173841.2:c.*537G>A

Links:

dbSNP: rs41294742

NCBI 1000 Genomes Browser:

rs41294742

Molecular consequence:

NM_000577.5:c.*537G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001318914.2:c.*537G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001379360.1:c.*537G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_173841.3:c.*537G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_173842.3:c.*537G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_173843.3:c.*537G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Sterile multifocal osteomyelitis with periostitis and pustulosis
Synonyms:: CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS
Identifiers:: MONDO: MONDO:0013021; MedGen: C2748507; Orphanet: 210115; OMIM: 612852

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001289231	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19280228, 20213597 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001289231

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 27, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Interleukin-1 cluster gene polymorphisms in childhood IgA nephropathy.

Hahn WH, Cho BS, Kim SD, Kim SK, Kang S.

Pediatr Nephrol. 2009 Jul;24(7):1329-36. doi: 10.1007/s00467-009-1146-5. Epub 2009 Mar 12.

PubMed [citation]

PMID:: 19280228

Genetic associations of IL1RN polymorphisms with metabolic syndrome in a Korean population.

Oh IH, Oh C, Kim HJ, Choi JM, Yoon TY, Chung JH, Choe BK.

Exp Clin Endocrinol Diabetes. 2010 May;118(5):333-7. doi: 10.1055/s-0030-1248288. Epub 2010 Mar 8.

PubMed [citation]

PMID:: 20213597

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001289231.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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