NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) AND Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1

Clinical significance:Uncertain significance (Last evaluated: Sep 11, 2007)

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:
RCV000014463.28

Allele description [Variation Report for NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys)]

NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys)

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.2492A>G (p.Tyr831Cys)
Other names:
p.Y831C:TAT>TGT
HGVS:
  • NC_000015.10:g.89321842T>C
  • NG_008218.2:g.17954A>G
  • NM_002693.2:c.2492A>G
  • NP_002684.1:p.Tyr831Cys
  • LRG_765t1:c.2492A>G
  • LRG_765:g.17954A>G
  • LRG_765p1:p.Tyr831Cys
  • NC_000015.9:g.89865073T>C
  • NG_008218.1:g.17954A>G
  • P54098:p.Tyr831Cys
Protein change:
Y831C; TYR831CYS
Links:
UniProtKB: P54098#VAR_023674; OMIM: 174763.0015; dbSNP: rs41549716
NCBI 1000 Genomes Browser:
rs41549716
Molecular consequence:
  • NM_002693.2:c.2492A>G - 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
SCV000034714OMIMno assertion criteria providedUncertain significance
(Sep 11, 2007)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

Mancuso M, Filosto M, Oh SJ, DiMauro S.

Arch Neurol. 2004 Nov;61(11):1777-9.

PubMed [citation]
PMID:
15534189

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.

Luoma PT, Eerola J, Ahola S, Hakonen AH, Hellström O, Kivistö KT, Tienari PJ, Suomalainen A.

Neurology. 2007 Sep 11;69(11):1152-9.

PubMed [citation]
PMID:
17846414

Details of each submission

From OMIM, SCV000034714.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant, formerly titled PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, has been reclassified based on the findings of Luoma et al. (2007).

In 2 sibs with early-onset parkinsonism and PEOA1 (157640), Mancuso et al. (2004) identified a heterozygous 2492A-G transition in exon 16 of the POLG gene, resulting in a tyr831-to-cys (Y831C) substitution. Parkinsonism was a prominent feature in both patients.

Luoma et al. (2007) identified the Y831C substitution in 5 controls, suggesting that it is a polymorphism.

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

Last Updated: Mar 30, 2019

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