NM_002693.2(POLG):c.1586-5delC AND Seizures

Clinical significance:Benign (Last evaluated: Aug 12, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000717665.1

Allele description [Variation Report for NM_002693.2(POLG):c.1586-5delC]

NM_002693.2(POLG):c.1586-5delC

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
MIR6766:microRNA 6766 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.1586-5delC
HGVS:
  • NC_000015.10:g.89326743delG
  • NM_002693.2:c.1586-5delC
  • LRG_765t1:c.1586-5del
  • LRG_765:g.13053del
  • NC_000015.9:g.89869974delG
  • NM_002693.2:c.1586-5del
Links:
dbSNP: rs2307434
NCBI 1000 Genomes Browser:
rs2307434
Molecular consequence:
  • NM_002693.2:c.1586-5delC - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000848520Ambry Geneticscriteria provided, single submitter
Benign
(Aug 12, 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, SCV000848520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

Support Center