U.S. flag

An official website of the United States government

NM_001135651.3(EIF2AK2):c.973G>A (p.Gly325Ser) AND Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 18, 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:
RCV001281096.9

Allele description [Variation Report for NM_001135651.3(EIF2AK2):c.973G>A (p.Gly325Ser)]

NM_001135651.3(EIF2AK2):c.973G>A (p.Gly325Ser)

Gene:
EIF2AK2:eukaryotic translation initiation factor 2 alpha kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.2
Genomic location:
Preferred name:
NM_001135651.3(EIF2AK2):c.973G>A (p.Gly325Ser)
HGVS:
  • NC_000002.12:g.37122600C>T
  • NG_030351.1:g.39448G>A
  • NM_001135651.3:c.973G>AMANE SELECT
  • NM_001135652.2:c.850G>A
  • NM_002759.4:c.973G>A
  • NM_002759.4:c.973G>A
  • NP_001129123.1:p.Gly325Ser
  • NP_001129124.1:p.Gly284Ser
  • NP_002750.1:p.Gly325Ser
  • NP_002750.1:p.Gly325Ser
  • NC_000002.11:g.37349743C>T
  • NM_002759.3:c.973G>A
Protein change:
G284S
Links:
dbSNP: rs1573010519
NCBI 1000 Genomes Browser:
rs1573010519
Molecular consequence:
  • NM_001135651.3:c.973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135652.2:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002759.4:c.973G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
Synonyms:
LEUDEN SYNDROME
Identifiers:
MONDO: MONDO:0030035; MedGen: C5394367; OMIM: 618877

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001468565SIB Swiss Institute of Bioinformatics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 18, 2020) 		unknowncuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, et al.

Am J Hum Genet. 2020 Apr 2;106(4):570-583. doi: 10.1016/j.ajhg.2020.02.016. Epub 2020 Mar 19.

PubMed [citation]
PMID:
32197074
PMCID:
PMC7118694

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 SIB Swiss Institute of Bioinformatics, SCV001468565.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

This variant is interpreted as a variant of uncertain significance for Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, autosomal dominant The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); de novo variant (PS2 downgraded to moderate); Multiple lines of computational evidence suggest no impact on gene or gene product (BP4).

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

Last Updated: Nov 24, 2024