NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Mar 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000490261.1

Allele description [Variation Report for NM_002693.2(POLG):c.2890C>T (p.Arg964Cys)]

NM_002693.2(POLG):c.2890C>T (p.Arg964Cys)

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.2890C>T (p.Arg964Cys)
Other names:
p.R964C:CGC>TGC
HGVS:
  • NC_000015.10:g.89320857G>A
  • NG_008218.2:g.18939C>T
  • NM_001126131.1:c.2890C>T
  • NM_002693.2:c.2890C>T
  • NP_001119603.1:p.Arg964Cys
  • NP_002684.1:p.Arg964Cys
  • LRG_765t1:c.2890C>T
  • LRG_765:g.18939C>T
  • LRG_765p1:p.Arg964Cys
  • NC_000015.9:g.89864088G>A
Protein change:
R964C
Links:
dbSNP: rs201477273
NCBI 1000 Genomes Browser:
rs201477273
Molecular consequence:
  • NM_002693.2:c.2890C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Progressive sclerosing poliodystrophy (MTDPS4A)
Synonyms:
Alpers Syndrome; Mitochondrial DNA depletion syndrome 4A (Alpers type); Alpers-Huttenlocher Syndrome
Identifiers:
MedGen: C0205710; Orphanet: 726; OMIM: 203700
Name:
Mitochondrial DNA depletion syndrome 4B, MNGIE type (MTDPS4B)
Synonyms:
MNGIE, POLG-RELATED; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related
Identifiers:
MedGen: C3150914; Orphanet: 298; OMIM: 613662

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267455Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Centercriteria provided, single submitter
Likely pathogenic
(Mar 18, 2016)
germlinereference population

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown3not providednot providednot providednot providedreference population

Citations

PubMed

Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment.

Yamanaka H, Gatanaga H, Kosalaraksa P, Matsuoka-Aizawa S, Takahashi T, Kimura S, Oka S.

J Infect Dis. 2007 May 15;195(10):1419-25. Epub 2007 Apr 4.

PubMed [citation]
PMID:
17436221

R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity.

Bailey CM, Kasiviswanathan R, Copeland WC, Anderson KS.

Antimicrob Agents Chemother. 2009 Jun;53(6):2610-2. doi: 10.1128/AAC.01659-08. Epub 2009 Apr 13.

PubMed [citation]
PMID:
19364868
PMCID:
PMC2687208
See all PubMed Citations (4)

Details of each submission

From Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center, SCV000267455.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian3not providednot providedreference population PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Apr 17, 2019

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