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NM_001142784.3(IL11RA):c.886C>T (p.Arg296Trp) AND Craniosynostosis and dental anomalies

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 15, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000023047.3

Allele description [Variation Report for NM_001142784.3(IL11RA):c.886C>T (p.Arg296Trp)]

NM_001142784.3(IL11RA):c.886C>T (p.Arg296Trp)

Gene:
IL11RA:interleukin 11 receptor subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_001142784.3(IL11RA):c.886C>T (p.Arg296Trp)
HGVS:
  • NC_000009.12:g.34659834C>T
  • NG_028966.1:g.12650C>T
  • NM_001142784.3:c.886C>TMANE SELECT
  • NP_001136256.1:p.Arg296Trp
  • NC_000009.11:g.34659831C>T
  • NR_052010.2:n.973C>T
  • Q14626:p.Arg296Trp
Protein change:
R296W; ARG296TRP
Links:
UniProtKB: Q14626#VAR_066668; OMIM: 600939.0001; dbSNP: rs387906784
NCBI 1000 Genomes Browser:
rs387906784
Molecular consequence:
  • NM_001142784.3:c.886C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_052010.2:n.973C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Craniosynostosis and dental anomalies (CRSDA)
Synonyms:
KREIBORG-PAKISTANI SYNDROME
Identifiers:
MONDO: MONDO:0013615; MedGen: C3280073; Orphanet: 284149; OMIM: 614188

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044338OMIM
no assertion criteria provided
Pathogenic
(Jul 15, 2011) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.

Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML, van der Spek PJ, Giraud A, Judd L, Arte S, Brueton LA, Wall SA, Mathijssen IM, Maher ER, Wilkie AO, Kreiborg S, Thesleff I.

Am J Hum Genet. 2011 Jul 15;89(1):67-81. doi: 10.1016/j.ajhg.2011.05.024.

PubMed [citation]
PMID:
21741611
PMCID:
PMC3135804

Details of each submission

From OMIM, SCV000044338.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 4 affected sibs from a consanguineous Pakistani family with craniosynostosis and dental anomalies (CRSDA; 614188), Nieminen et al. (2011) identified homozygosity for an c.886C-T transition in exon 9 of the IL11RA gene, resulting in an arg296-to-trp (R296W) substitution at a residue that is absolutely conserved in all mammalian Il11ra orthologs and located within the extremely conserved second extracellular fibronectin-type domain III (FNIII). The mutation was not found in 186 Pakistani or 214 European control samples. Functional analysis in transfected 293T and HeLa cells demonstrated that the R296W mutation rendered the receptor unable to mediate the IL11 (147681) signal.

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

Last Updated: Jun 10, 2023