NM_002693.2(POLG):c.147_158delGCAGCAGCAGCA (p.Gln52_Gln55del) AND Seizures

Clinical significance:Likely benign (Last evaluated: Nov 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000720236.1

Allele description [Variation Report for NM_002693.2(POLG):c.147_158delGCAGCAGCAGCA (p.Gln52_Gln55del)]

NM_002693.2(POLG):c.147_158delGCAGCAGCAGCA (p.Gln52_Gln55del)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.147_158delGCAGCAGCAGCA (p.Gln52_Gln55del)
HGVS:
  • NC_000015.10:g.89333597_89333608delTGCTGCTGCTGC
  • NM_002693.2:c.147_158delGCAGCAGCAGCA
  • NP_002684.1:p.Gln52_Gln55del
  • LRG_765t1:c.147_158del
  • LRG_765:g.6188_6199del
  • LRG_765p1:p.Gln52_Gln55del
  • NC_000015.9:g.89876828_89876839delTGCTGCTGCTGC
  • p.Q52_Q55del
Links:
dbSNP: rs41550117
NCBI 1000 Genomes Browser:
rs41550117
Molecular consequence:
  • NM_002693.2:c.147_158delGCAGCAGCAGCA - inframe_variant - [Sequence Ontology: SO:0001650]
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
SCV000851113Ambry Geneticscriteria provided, single submitter
Likely benign
(Nov 13, 2017)
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, SCV000851113.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Lines of evidence used in support of classification: Other strong data supporting benign classification,Other strong data

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

Last Updated: Mar 30, 2019

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