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NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) AND EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 13, 2020
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:
RCV001030062.4

Allele description [Variation Report for NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)]

NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)

Gene:
EEF1A2:eukaryotic translation elongation factor 1 alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)
HGVS:
  • NC_000020.11:g.63495909C>T
  • NG_034083.1:g.8407G>A
  • NM_001958.5:c.271G>AMANE SELECT
  • NP_001949.1:p.Asp91Asn
  • NP_001949.1:p.Asp91Asn
  • NC_000020.10:g.62127262C>T
  • NM_001958.3:c.271G>A
  • NM_001958.4:c.271G>A
Protein change:
D91N
Links:
dbSNP: rs886041197
NCBI 1000 Genomes Browser:
rs886041197
Molecular consequence:
  • NM_001958.5:c.271G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001192842Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 13, 2020) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

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 Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, SCV001192842.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The EEF1A2 c.271G>A; p.Asp91Asn variant has been identified in an individual with myoclonic seizures beginning at 4 months, tonic seizures, generalized tonic-clonic seizures, and focal seizures. This individual has global developmental delays with developmental regression, profound intellectual disability, and dystonia. Neuroimaging was normal. The variant is de novo in this individual, is absent from population databases (ExAC, gnomAD), and is predicted to have a damaging effect on the protein by in silico models. Therefore, this variant has been classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024