NM_002693.2(POLG):c.2869G>T (p.Ala957Ser) AND Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000014462.19

Allele description [Variation Report for NM_002693.2(POLG):c.2869G>T (p.Ala957Ser)]

NM_002693.2(POLG):c.2869G>T (p.Ala957Ser)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.2869G>T (p.Ala957Ser)
HGVS:
  • NC_000015.10:g.89320878C>A
  • NG_008218.2:g.18918G>T
  • NM_002693.2:c.2869G>T
  • NP_002684.1:p.Ala957Ser
  • LRG_765t1:c.2869G>T
  • LRG_765:g.18918G>T
  • LRG_765p1:p.Ala957Ser
  • NC_000015.9:g.89864109C>A
  • NG_008218.1:g.18918G>T
  • P54098:p.Ala957Ser
Protein change:
A957S; ALA957SER
Links:
UniProtKB: P54098#VAR_023682; OMIM: 174763.0014; dbSNP: rs121918051
NCBI 1000 Genomes Browser:
rs121918051
Molecular consequence:
  • NM_002693.2:c.2869G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1)
Synonyms:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1; Autosomal Dominant Progressive External Ophthalmoplegia
Identifiers:
MedGen: C1834846; OMIM: 157640

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034713OMIMno assertion criteria providedPathogenic
(Aug 1, 2002)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M.

Ann Neurol. 2002 Aug;52(2):211-9.

PubMed [citation]
PMID:
12210792

Details of each submission

From OMIM, SCV000034713.3

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

Description

In affected members of 2 PEOA1 (157640) families originating from a small village in northwest Sicily, Lamantea et al. (2002) identified a heterozygous 2869G-T transversion in the POLG gene, resulting in an ala957-to-ser (A957S) substitution. One patient in 1 of the families was homozygous for the A957S mutation and showed a more severe phenotype with earlier onset and a much higher amount of mtDNA deletions than his mildly affected heterozygous mother. Microsatellite analysis showed a common disease haplotype, supporting a common origin in these 2 families.

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

Last Updated: Mar 30, 2019

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