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

Clinical significance:Benign (Last evaluated: Mar 21, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000715555.1

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]
Observations:
1

Condition(s)

Name:
Seizures
Synonyms:
Seizure; Epilepsy
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000846384Ambry Geneticscriteria provided, single submitter
Benign
(Mar 21, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000846384.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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