NM_002693.2(POLG):c.3017G>A (p.Arg1006Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000188518.2

Allele description [Variation Report for NM_002693.2(POLG):c.3017G>A (p.Arg1006Lys)]

NM_002693.2(POLG):c.3017G>A (p.Arg1006Lys)

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.3017G>A (p.Arg1006Lys)
Other names:
p.R1006K:AGG>AAG
HGVS:
  • NC_000015.10:g.89319315C>T
  • NG_008218.2:g.20481G>A
  • NM_002693.2:c.3017G>A
  • NP_002684.1:p.Arg1006Lys
  • LRG_765t1:c.3017G>A
  • LRG_765:g.20481G>A
  • LRG_765p1:p.Arg1006Lys
  • NC_000015.9:g.89862546C>T
Protein change:
R1006K
Links:
dbSNP: rs142732551
NCBI 1000 Genomes Browser:
rs142732551
Molecular consequence:
  • NM_002693.2:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000242132GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 28, 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, SCV000242132.12

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

Description

A variant of uncertain significance has been identified in the POLG gene. The R1006K variant has notbeen published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 1/10150 (0.01%) alleles from individuals of Ashkenazi Jewish backgroundin large population cohorts (Lek et al., 2016). The R1006K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, in-silico analyses, including protein predictors and evolutionaryconservation, support that this variant does not alter 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

Last Updated: Apr 17, 2019

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