NM_002693.2(POLG):c.128A>G (p.Gln43Arg) AND not specified

Clinical significance:Benign (Last evaluated: Nov 11, 2014)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000118010.6

Allele description [Variation Report for NM_002693.2(POLG):c.128A>G (p.Gln43Arg)]

NM_002693.2(POLG):c.128A>G (p.Gln43Arg)

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.128A>G (p.Gln43Arg)
Other names:
p.Q43R:CAG>CGG
HGVS:
  • NC_000015.10:g.89333627T>C
  • NG_008218.2:g.6169A>G
  • NM_002693.2:c.128A>G
  • NP_002684.1:p.Gln43Arg
  • LRG_765t1:c.128A>G
  • LRG_765:g.6169A>G
  • LRG_765p1:p.Gln43Arg
  • NC_000015.9:g.89876858T>C
Protein change:
Q43R
Links:
dbSNP: rs28567406
NCBI 1000 Genomes Browser:
rs28567406
Molecular consequence:
  • NM_002693.2:c.128A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000152328Genetic Services Laboratory, University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

SCV000171114GeneDxcriteria provided, single submitter
Benign
(May 17, 2013)
germlineclinical testing

Citation Link,

SCV000227274EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Nov 11, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000152328.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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

From GeneDx, SCV000171114.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000227274.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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