NM_002693.2(POLG):c.131A>G (p.Gln44Arg) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Oct 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000175731.3

Allele description [Variation Report for NM_002693.2(POLG):c.131A>G (p.Gln44Arg)]

NM_002693.2(POLG):c.131A>G (p.Gln44Arg)

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.131A>G (p.Gln44Arg)
HGVS:
  • NC_000015.10:g.89333624T>C
  • NG_008218.2:g.6172A>G
  • NM_002693.2:c.131A>G
  • NP_002684.1:p.Gln44Arg
  • LRG_765t1:c.131A>G
  • LRG_765:g.6172A>G
  • LRG_765p1:p.Gln44Arg
  • NC_000015.9:g.89876855T>C
Protein change:
Q44R
Links:
dbSNP: rs757120802
NCBI 1000 Genomes Browser:
rs757120802
Molecular consequence:
  • NM_002693.2:c.131A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000581756GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 26, 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, SCV000581756.3

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

Description

A variant of uncertain significance has been identified in the POLG gene. The Q44R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 5,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q44R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some 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

Last Updated: Mar 30, 2019

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