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NM_003907.3(EIF2B5):c.470C>G (p.Ser157Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 6, 2023
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:
RCV003557829.2

Allele description [Variation Report for NM_003907.3(EIF2B5):c.470C>G (p.Ser157Ter)]

NM_003907.3(EIF2B5):c.470C>G (p.Ser157Ter)

Gene:
EIF2B5:eukaryotic translation initiation factor 2B subunit epsilon [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.1
Genomic location:
Preferred name:
NM_003907.3(EIF2B5):c.470C>G (p.Ser157Ter)
HGVS:
  • NC_000003.12:g.184137769C>G
  • NG_015826.1:g.7748C>G
  • NM_003907.3:c.470C>GMANE SELECT
  • NP_003898.2:p.Ser157Ter
  • LRG_1278t1:c.470C>G
  • LRG_1278:g.7748C>G
  • LRG_1278p1:p.Ser157Ter
  • NC_000003.11:g.183855557C>G
Protein change:
S157*
Molecular consequence:
  • NM_003907.3:c.470C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004297135Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 6, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS.

Nat Genet. 2001 Dec;29(4):383-8.

PubMed [citation]
PMID:
11704758

Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.

Li W, Wang X, Van Der Knaap MS, Proud CG.

Mol Cell Biol. 2004 Apr;24(8):3295-306.

PubMed [citation]
PMID:
15060152
PMCID:
PMC381664
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004297135.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with EIF2B5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser157*) in the EIF2B5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EIF2B5 are known to be pathogenic (PMID: 11704758, 15060152, 21307862).

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

Last Updated: Sep 29, 2024