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NM_002693.3(POLG):c.2987G>A (p.Arg996Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002433851.2

Allele description [Variation Report for NM_002693.3(POLG):c.2987G>A (p.Arg996Gln)]

NM_002693.3(POLG):c.2987G>A (p.Arg996Gln)

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.2987G>A (p.Arg996Gln)
Other names:
p.R996Q:CGG>CAG
HGVS:
  • NC_000015.10:g.89319345C>T
  • NG_008218.2:g.20451G>A
  • NM_001126131.2:c.2987G>A
  • NM_002693.3:c.2987G>AMANE SELECT
  • NP_001119603.1:p.Arg996Gln
  • NP_002684.1:p.Arg996Gln
  • NP_002684.1:p.Arg996Gln
  • LRG_765t1:c.2987G>A
  • LRG_765:g.20451G>A
  • LRG_765p1:p.Arg996Gln
  • NC_000015.9:g.89862576C>T
  • NM_002693.2:c.2987G>A
Protein change:
R996Q
Links:
dbSNP: rs770236576
NCBI 1000 Genomes Browser:
rs770236576
Molecular consequence:
  • NM_001126131.2:c.2987G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.2987G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002751433Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 7, 2018) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Determination of the clinical significance of an unclassified variant.

Zhang VW, Wang J.

Methods Mol Biol. 2012;837:337-48. doi: 10.1007/978-1-61779-504-6_23.

PubMed [citation]
PMID:
22215559

Details of each submission

From Ambry Genetics, SCV002751433.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.R996Q variant (also known as c.2987G>A), located in coding exon 18 of the POLG gene, results from a G to A substitution at nucleotide position 2987. The arginine at codon 996 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024