NM_002693.2(POLG):c.3640C>T (p.Gln1214Ter) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000579250.1

Allele description [Variation Report for NM_002693.2(POLG):c.3640C>T (p.Gln1214Ter)]

NM_002693.2(POLG):c.3640C>T (p.Gln1214Ter)

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.3640C>T (p.Gln1214Ter)
HGVS:
  • NC_000015.10:g.89317379G>A
  • NG_008218.2:g.22417C>T
  • NG_011736.1:g.78417G>A
  • NM_001126131.2:c.3640C>T
  • NM_002693.2:c.3640C>T
  • NP_001119603.1:p.Gln1214Ter
  • NP_002684.1:p.Gln1214Ter
  • LRG_765t1:c.3640C>T
  • LRG_500:g.78417G>A
  • LRG_765:g.22417C>T
  • LRG_765p1:p.Gln1214Ter
  • NC_000015.9:g.89860610G>A
Protein change:
Q1214*
Links:
dbSNP: rs781256643
NCBI 1000 Genomes Browser:
rs781256643
Molecular consequence:
  • NM_001126131.2:c.3640C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002693.2:c.3640C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680672GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 7, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000680672.2

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

Description

The Q1214X variant in the POLG gene has been reported previously in the heterozygous state in an individual with dementia, muscle weakness, easy fatigability, ophthalmoparesis, myopathy, mitochondrial changes, abnormal muscle histology, and abnormal electromyogram/nerve conduction velocity (Tang et al., 2011). This variant is predicted to cause loss of normal protein function through protein truncation. The Q1214X 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). We interpret Q1214X as a variant of uncertain significance.

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

Last Updated: Mar 17, 2021

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