NM_173842.3(IL1RN):c.197A>G (p.Asn66Ser) AND Sterile multifocal osteomyelitis with periostitis and pustulosis

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 31, 2021
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:: RCV001294372.5

Allele description

NM_173842.3(IL1RN):c.197A>G (p.Asn66Ser)

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.197A>G (p.Asn66Ser)

HGVS:

NC_000002.12:g.113129656A>G
NG_021240.1:g.16764A>G
NM_000577.5:c.143A>G
NM_001318914.2:c.95A>G
NM_001379360.1:c.95A>G
NM_173841.3:c.206A>G
NM_173842.3:c.197A>GMANE SELECT
NM_173843.3:c.95A>G
NP_000568.1:p.Asn48Ser
NP_001305843.1:p.Asn32Ser
NP_001366289.1:p.Asn32Ser
NP_776213.1:p.Asn69Ser
NP_776214.1:p.Asn66Ser
NP_776215.1:p.Asn32Ser
LRG_188:g.16764A>G
NC_000002.11:g.113887233A>G

Protein change:

N32S

Links:

dbSNP: rs761355602

NCBI 1000 Genomes Browser:

rs761355602

Molecular consequence:

NM_000577.5:c.143A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318914.2:c.95A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001379360.1:c.95A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_173841.3:c.206A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_173842.3:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_173843.3:c.95A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001483247	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 31, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001483247

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 31, 2021)

germline

clinical testing

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001483247.3

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

Description

This sequence change replaces asparagine with serine at codon 69 of the IL1RN protein (p.Asn69Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs761355602, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with IL1RN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Aug 5, 2023

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