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NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter) AND Wolcott-Rallison dysplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2015
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:
RCV000204196.1

Allele description

NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter)

Gene:
EIF2AK3:eukaryotic translation initiation factor 2 alpha kinase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter)
HGVS:
  • NC_000002.12:g.88588875G>A
  • NG_016424.1:g.43702C>T
  • NM_001313915.1:c.739C>T
  • NM_004836.7:c.1192C>TMANE SELECT
  • NP_001300844.1:p.Gln247Ter
  • NP_004827.4:p.Gln398Ter
  • LRG_1024t1:c.1192C>T
  • LRG_1024:g.43702C>T
  • LRG_1024p1:p.Gln398Ter
  • NC_000002.11:g.88888393G>A
  • NM_004836.5:c.1192C>T
Protein change:
Q247*
Links:
dbSNP: rs864621972
NCBI 1000 Genomes Browser:
rs864621972
Molecular consequence:
  • NM_001313915.1:c.739C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004836.7:c.1192C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Wolcott-Rallison dysplasia
Synonyms:
Wolcott Rallison syndrome
Identifiers:
MONDO: MONDO:0009192; MedGen: C0432217; Orphanet: 1667; OMIM: 226980

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223911Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Apr 1, 2015) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Polla DL, Cardoso MT, Silva MC, Cardoso IC, Medina CT, Araujo R, Fernandes CC, Reis AM, de Andrade RV, Pereira RW, Pogue R.

PLoS One. 2015;10(9):e0138314. doi: 10.1371/journal.pone.0138314.

PubMed [citation]
PMID:
26380986
PMCID:
PMC4575211

Details of each submission

From Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília, SCV000223911.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 26, 2021