NM_002693.2(POLG):c.153_158dupGCAGCA (p.Gln55_Pro56insGlnGln) AND not provided

Clinical significance:Likely benign (Last evaluated: Jun 19, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000514102.2

Allele description [Variation Report for NM_002693.2(POLG):c.153_158dupGCAGCA (p.Gln55_Pro56insGlnGln)]

NM_002693.2(POLG):c.153_158dupGCAGCA (p.Gln55_Pro56insGlnGln)

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.153_158dupGCAGCA (p.Gln55_Pro56insGlnGln)
HGVS:
  • NC_000015.10:g.89333597_89333602dupTGCTGC
  • NG_008218.2:g.6194_6199dup
  • NP_002684.1:p.Gln55_Pro56insGlnGln
  • LRG_765t1:c.153_158dup
  • LRG_765:g.6194_6199dup
  • LRG_765p1:p.Gln55_Pro56insGlnGln
  • NC_000015.9:g.89876828_89876833dupTGCTGC
  • NM_002693.2:c.153_158dup
  • NM_002693.2:c.153_158dupGCAGCA
  • p.Q54_Q55dup
Links:
dbSNP: rs41550117
NCBI 1000 Genomes Browser:
rs41550117
Molecular consequence:
  • NM_002693.2:c.153_158dupGCAGCA - inframe_variant - [Sequence Ontology: SO:0001650]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000610869Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Likely benign
(Jun 19, 2017)
germlineclinical testing

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

SCV000802102Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedBenign
(Feb 26, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot 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 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000610869.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.00902not providednot provided

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000802102.1

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

Last Updated: Mar 30, 2019

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