NM_002693.2(POLG):c.2152G>T (p.Ala718Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 18, 2017)

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:
RCV000729971.2

Allele description [Variation Report for NM_002693.2(POLG):c.2152G>T (p.Ala718Ser)]

NM_002693.2(POLG):c.2152G>T (p.Ala718Ser)

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.2152G>T (p.Ala718Ser)
HGVS:
  • NC_000015.10:g.89323820C>A
  • NG_008218.2:g.15976G>T
  • NM_002693.2:c.2152G>T
  • NP_002684.1:p.Ala718Ser
  • LRG_765t1:c.2152G>T
  • LRG_765:g.15976G>T
  • LRG_765p1:p.Ala718Ser
  • NC_000015.9:g.89867051C>A
Protein change:
A718S
Links:
dbSNP: rs755783536
NCBI 1000 Genomes Browser:
rs755783536
Molecular consequence:
  • NM_002693.2:c.2152G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000589943GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 22, 2017)
germlineclinical testing

Citation Link,

SCV000857674EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Oct 18, 2017)
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 GeneDx, SCV000589943.3

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

Description

A variant of uncertain significance has been identified in the POLG gene. The A718S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A718S variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A718S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000857674.1

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

Last Updated: Apr 17, 2019

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