NM_002693.2(POLG):c.153_158delGCAGCA (p.Gln54_Gln55del) AND not specified

Clinical significance:Likely benign (Last evaluated: May 9, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000153757.4

Allele description [Variation Report for NM_002693.2(POLG):c.153_158delGCAGCA (p.Gln54_Gln55del)]

NM_002693.2(POLG):c.153_158delGCAGCA (p.Gln54_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.153_158delGCAGCA (p.Gln54_Gln55del)
HGVS:
  • NC_000015.10:g.89333597_89333602delTGCTGC
  • NM_002693.2:c.153_158delGCAGCA
  • NP_002684.1:p.Gln54_Gln55del
  • LRG_765t1:c.153_158del
  • LRG_765:g.6194_6199del
  • LRG_765p1:p.Gln54_Gln55del
  • NC_000015.9:g.89876828_89876833delTGCTGC
  • p.Q54_Q55del
Links:
dbSNP: rs41550117
NCBI 1000 Genomes Browser:
rs41550117
Molecular consequence:
  • NM_002693.2:c.153_158delGCAGCA - inframe_variant - [Sequence Ontology: SO:0001650]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000203331EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsno assertion criteria providedBenign
(Mar 20, 2014)
germlineclinical testing

SCV000242148GeneDxcriteria provided, single submitter
Likely benign
(May 9, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot provided112not providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000203331.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing
(GTR000503135)
not provided
2not provided0not providednot providedclinical testingnot provided
3not provided0not providednot providedclinical testingnot provided
4not provided0not providednot providedclinical testingnot provided
5not provided0not providednot providedclinical testingnot provided
6not provided0not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown79not providednot provided
(GTR000503135)
2not providednot providednot provided
2germlineunknown33not providednot provided0not providednot providednot provided
3germlineunknownnot providednot providednot provided0not providednot providednot provided
4germlineunknownnot providednot providednot provided0not providednot providednot provided
5germlineunknownnot providednot providednot provided0not providednot providednot provided
6germlineunknownnot providednot providednot provided0not providednot providednot provided

From GeneDx, SCV000242148.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The variant is found in MITONUC-MITOP panel(s).

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

Last Updated: Apr 22, 2019

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