NM_002693.2(POLG):c.2830G>A (p.Glu944Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 10, 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:
RCV000188589.4

Allele description [Variation Report for NM_002693.2(POLG):c.2830G>A (p.Glu944Lys)]

NM_002693.2(POLG):c.2830G>A (p.Glu944Lys)

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.2830G>A (p.Glu944Lys)
Other names:
p.E944K:GAG>AAG
HGVS:
  • NC_000015.10:g.89320917C>T
  • NG_008218.2:g.18879G>A
  • NM_002693.2:c.2830G>A
  • NP_002684.1:p.Glu944Lys
  • LRG_765t1:c.2830G>A
  • LRG_765:g.18879G>A
  • LRG_765p1:p.Glu944Lys
  • NC_000015.9:g.89864148C>T
Protein change:
E944K
Links:
dbSNP: rs768653086
NCBI 1000 Genomes Browser:
rs768653086
Molecular consequence:
  • NM_002693.2:c.2830G>A - 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
SCV000242211GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 10, 2018)
germlineclinical testing

Citation Link,

SCV000707130EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 23, 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, SCV000242211.11

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

Description

p.Glu944Lys (GAG>AAG): c.2830 G>A in exon 18 of the POLG gene (NM_002693.2). The E944K variant in the POLG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E944K variant is observed in 39/17,248 (0.226%) alleles from individuals of East Asian background, and in 40/245,960 total alleles, in large population cohorts (Lek et al., 2016). The E944K 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret E944K as a variant of uncertain significance. The variant is found in EPILEPSY panel(s).

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

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000707130.2

#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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