NM_002693.2(POLG):c.3176A>T (p.Asn1059Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 7, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000188606.2

Allele description [Variation Report for NM_002693.2(POLG):c.3176A>T (p.Asn1059Ile)]

NM_002693.2(POLG):c.3176A>T (p.Asn1059Ile)

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.3176A>T (p.Asn1059Ile)
Other names:
p.N1059I:AAT>ATT
HGVS:
  • NC_000015.10:g.89319028T>A
  • NG_008218.2:g.20768A>T
  • NM_002693.2:c.3176A>T
  • NP_002684.1:p.Asn1059Ile
  • LRG_765t1:c.3176A>T
  • LRG_765:g.20768A>T
  • LRG_765p1:p.Asn1059Ile
  • NC_000015.9:g.89862259T>A
Protein change:
N1059I
Links:
dbSNP: rs201192905
NCBI 1000 Genomes Browser:
rs201192905
Molecular consequence:
  • NM_002693.2:c.3176A>T - 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
SCV000242229GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 7, 2014)
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, SCV000242229.11

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

Description

p.Asn1059Ile (AAT>ATT): c.3176 A>T in exon 20 of the POLG gene (NM_002693.2). The N1059I variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 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 N1059I 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. This substitution alters a highly conserved position and other missense mutations in this region of the protein have been reported in association with POLG-related disorders. In silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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

Last Updated: Apr 17, 2019

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