NM_002693.2(POLG):c.2481-7C>T AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 17, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000676323.2

Allele description [Variation Report for NM_002693.2(POLG):c.2481-7C>T]

NM_002693.2(POLG):c.2481-7C>T

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.2481-7C>T
HGVS:
  • NC_000015.10:g.89321860G>A
  • NG_008218.2:g.17936C>T
  • NM_002693.2:c.2481-7C>T
  • LRG_765t1:c.2481-7C>T
  • LRG_765:g.17936C>T
  • NC_000015.9:g.89865091G>A
Links:
dbSNP: rs2307448
NCBI 1000 Genomes Browser:
rs2307448
Molecular consequence:
  • NM_002693.2:c.2481-7C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
18

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000226462EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Sep 17, 2018)
germlineclinical testing

Citation Link,

SCV000802084Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedLikely benign
(Feb 24, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown18not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000226462.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided18not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided18not providednot providednot provided

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000802084.1

#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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