NM_002693.2(POLG):c.134A>G (p.Gln45Arg) AND Seizures

Clinical significance:Likely benign (Last evaluated: Dec 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000716809.1

Allele description [Variation Report for NM_002693.2(POLG):c.134A>G (p.Gln45Arg)]

NM_002693.2(POLG):c.134A>G (p.Gln45Arg)

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.134A>G (p.Gln45Arg)
Other names:
p.Q45R:CAG>CGG
HGVS:
  • NC_000015.10:g.89333621T>C
  • NG_008218.2:g.6175A>G
  • NM_002693.2:c.134A>G
  • NP_002684.1:p.Gln45Arg
  • LRG_765t1:c.134A>G
  • LRG_765:g.6175A>G
  • LRG_765p1:p.Gln45Arg
  • NC_000015.9:g.89876852T>C
Protein change:
Q45R
Links:
dbSNP: rs201016638
NCBI 1000 Genomes Browser:
rs201016638
Molecular consequence:
  • NM_002693.2:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizures
Synonyms:
Seizure; Epilepsy
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000847653Ambry Geneticscriteria provided, single submitter
Likely benign
(Dec 14, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

The unfolding clinical spectrum of POLG mutations.

Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ.

J Med Genet. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2.

PubMed [citation]
PMID:
19578034

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ.

J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31.

PubMed [citation]
PMID:
21880868

Details of each submission

From Ambry Genetics, SCV000847653.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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