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NM_001958.5(EEF1A2):c.754G>C (p.Asp252His) AND Developmental and epileptic encephalopathy, 33

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000845037.1

Allele description [Variation Report for NM_001958.5(EEF1A2):c.754G>C (p.Asp252His)]

NM_001958.5(EEF1A2):c.754G>C (p.Asp252His)

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.754G>C (p.Asp252His)
HGVS:
  • NC_000020.11:g.63493155C>G
  • NG_034083.1:g.11161G>C
  • NM_001958.5:c.754G>CMANE SELECT
  • NP_001949.1:p.Asp252His
  • NC_000020.10:g.62124508C>G
  • NM_001958.3:c.754G>C
  • Q05639:p.Asp252His
Protein change:
D252H; ASP252HIS
Links:
UniProtKB: Q05639#VAR_073808; OMIM: 602959.0002; dbSNP: rs786205865
NCBI 1000 Genomes Browser:
rs786205865
Molecular consequence:
  • NM_001958.5:c.754G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 33 (DEE33)
Synonyms:
Epileptic encephalopathy, early infantile, 33
Identifiers:
MONDO: MONDO:0014625; MedGen: C4225337; Orphanet: 442835; OMIM: 616409

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986873GenomeConnect, ClinGen
no classification provided
not providedde novophenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986873.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as pathogenic and reported on 10/30/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Dec 9, 2023