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NM_014239.3(EIF2B2):c.512C>T (p.Ser171Phe) AND Ovarioleukodystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 4, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000004587.1

Allele description

NM_014239.3(EIF2B2):c.512C>T (p.Ser171Phe)

Gene:
EIF2B2:eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_014239.3(EIF2B2):c.512C>T (p.Ser171Phe)
HGVS:
  • NC_000014.9:g.75004815C>T
  • NG_013333.1:g.6907C>T
  • NM_014239.3:c.512C>T
  • NP_055054.1:p.Ser171Phe
  • NC_000014.8:g.75471518C>T
  • NM_014239.2:c.512C>T
Protein change:
S171F; SER171PHE
Links:
OMIM: 606454.0004; dbSNP: rs104894428
NCBI 1000 Genomes Browser:
rs104894428
Molecular consequence:
  • NM_014239.3:c.512C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ovarioleukodystrophy
Identifiers:
MedGen: C1847967

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024761OMIM
no assertion criteria provided
Pathogenic
(Mar 4, 2013) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Ovarian failure related to eukaryotic initiation factor 2B mutations.

Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O.

Am J Hum Genet. 2003 Jun;72(6):1544-50. Epub 2003 Apr 21.

PubMed [citation]
PMID:
12707859
PMCID:
PMC1180314

Details of each submission

From OMIM, SCV000024761.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with ovarioleukodystrophy (603896), Fogli et al. (2003) identified a C-to-T transition at nucleotide 512 of the EIF2B2 gene, resulting in a ser171-to-phe mutation (S171F), in compound heterozygous state with a 6-bp deletion (ATGGCT)/2-bp insertion (TG) at nucleotide 607, resulting in a frameshift at met203 (606454.0005). Secondary amenorrhea began at age 26 years in the patient.

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

Last Updated: Jul 1, 2015