NM_002693.2(POLG):c.150_158dupGCAGCAGCA (p.Gln55_Pro56insGlnGlnGln) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Apr 13, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000188532.3

Allele description [Variation Report for NM_002693.2(POLG):c.150_158dupGCAGCAGCA (p.Gln55_Pro56insGlnGlnGln)]

NM_002693.2(POLG):c.150_158dupGCAGCAGCA (p.Gln55_Pro56insGlnGlnGln)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.150_158dupGCAGCAGCA (p.Gln55_Pro56insGlnGlnGln)
HGVS:
  • NC_000015.10:g.89333597_89333605dupTGCTGCTGC
  • NG_008218.2:g.6191_6199dup
  • NP_002684.1:p.Gln55_Pro56insGlnGlnGln
  • LRG_765t1:c.150_158dup
  • LRG_765:g.6191_6199dup
  • LRG_765p1:p.Gln55_Pro56insGlnGlnGln
  • NC_000015.9:g.89876828_89876836dupTGCTGCTGC
  • NM_002693.2:c.150_158dup
  • NM_002693.2:c.150_158dupGCAGCAGCA
  • p.Q53_Q55dup
Links:
dbSNP: rs41550117
NCBI 1000 Genomes Browser:
rs41550117
Molecular consequence:
  • NM_002693.2:c.150_158dupGCAGCAGCA - 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
SCV000242147GeneDxcriteria provided, single submitter
Benign
(Aug 19, 2014)
germlineclinical testing

Citation Link,

SCV000248552Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely benign
(Apr 6, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000707571EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Apr 13, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000242147.3

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

Description

The variant is found in POLG panel(s).

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

From Genetic Services Laboratory, University of Chicago, SCV000248552.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000707571.2

#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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