NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) AND not provided

Clinical significance:Benign (Last evaluated: Jul 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000676317.1

Allele description [Variation Report for NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly)]

NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly)

Genes:
FANCI:FA complementation group I [Gene - OMIM - HGNC]
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.3428A>G (p.Glu1143Gly)
HGVS:
  • NC_000015.10:g.89318595T>C
  • NG_008218.2:g.21201A>G
  • NG_011736.1:g.79633T>C
  • NM_002693.2:c.3428A>G
  • NP_002684.1:p.Glu1143Gly
  • LRG_765t1:c.3428A>G
  • LRG_500:g.79633T>C
  • LRG_765:g.21201A>G
  • LRG_765p1:p.Glu1143Gly
  • NC_000015.9:g.89861826T>C
  • NG_008218.1:g.21201A>G
  • P54098:p.Glu1143Gly
Protein change:
E1143G
Links:
UniProtKB: P54098#VAR_014909; dbSNP: rs2307441
NCBI 1000 Genomes Browser:
rs2307441
Molecular consequence:
  • NM_002693.2:c.3428A>G - 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
SCV000802076Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedLikely benign
(Feb 25, 2016)
unknownclinical testing

SCV000843333Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jul 26, 2018)
germlineclinical testing

PubMed (16)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

POLG mutations in Alpers syndrome.

Nguyen KV, Ƙstergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK.

Neurology. 2005 Nov 8;65(9):1493-5. Epub 2005 Sep 21.

PubMed [citation]
PMID:
16177225

Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.

Chan SS, Longley MJ, Copeland WC.

Hum Mol Genet. 2006 Dec 1;15(23):3473-83. Epub 2006 Nov 6.

PubMed [citation]
PMID:
17088268
PMCID:
PMC1780027
See all PubMed Citations (16)

Details of each submission

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000802076.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV000843333.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (16)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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