NM_002693.2(POLG):c.147_158delGCAGCAGCAGCA (p.Gln52_Gln55del) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Apr 27, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000188530.3

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000242145GeneDxcriteria provided, single submitter
Benign
(Dec 29, 2014)
germlineclinical testing

Citation Link,

SCV000341685EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Apr 27, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000242145.3

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

Description

The variant is found in MITONUC-MITOP,CHILD-EPI,INFANT-EPI panel(s).

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

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000341685.4

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

Last Updated: Mar 30, 2019

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