NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000712791.2

Allele description [Variation Report for NM_002693.2(POLG):c.2207A>G (p.Asn736Ser)]

NM_002693.2(POLG):c.2207A>G (p.Asn736Ser)

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.2207A>G (p.Asn736Ser)
Other names:
p.N736S:AAT>AGT
HGVS:
  • NC_000015.10:g.89323462T>C
  • NG_008218.2:g.16334A>G
  • NM_002693.2:c.2207A>G
  • NP_002684.1:p.Asn736Ser
  • LRG_765t1:c.2207A>G
  • LRG_765:g.16334A>G
  • LRG_765p1:p.Asn736Ser
  • NC_000015.9:g.89866693T>C
Protein change:
N736S
Links:
dbSNP: rs138457939
NCBI 1000 Genomes Browser:
rs138457939
Molecular consequence:
  • NM_002693.2:c.2207A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
7

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700969EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Apr 27, 2018)
germlineclinical testing

Citation Link,

SCV000843320Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Feb 22, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown7not providednot providednot providednot providedclinical testing

Citations

PubMed

Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?

Verhoeven WM, Egger JI, Kremer BP, de Pont BJ, Marcelis CL.

Neuropsychiatr Dis Treat. 2011;7:293-6. doi: 10.2147/NDT.S20153. Epub 2011 May 15.

PubMed [citation]
PMID:
21654874
PMCID:
PMC3101889

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, Sajadieh A, Haunsø S, Svendsen JH, Olesen MS.

Eur J Hum Genet. 2013 Sep;21(9):918-28. doi: 10.1038/ejhg.2012.283. Epub 2013 Jan 9.

PubMed [citation]
PMID:
23299917
PMCID:
PMC3746259
See all PubMed Citations (4)

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000700969.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided7not providednot providednot provided

From Athena Diagnostics Inc, SCV000843320.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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