NM_002693.2(POLG):c.3482+6C>T AND POLG-Related Spectrum Disorders

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000316461.1

Allele description [Variation Report for NM_002693.2(POLG):c.3482+6C>T]

NM_002693.2(POLG):c.3482+6C>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.3482+6C>T
HGVS:
  • NC_000015.10:g.89318535G>A
  • NG_008218.2:g.21261C>T
  • NM_002693.2:c.3482+6C>T
  • LRG_765t1:c.3482+6C>T
  • LRG_765:g.21261C>T
  • NC_000015.9:g.89861766G>A
Links:
dbSNP: rs55779802
NCBI 1000 Genomes Browser:
rs55779802
Molecular consequence:
  • NM_002693.2:c.3482+6C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
POLG-Related Spectrum Disorders
Identifiers:
MedGen: CN239393

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000394265Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000394265.2

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

Last Updated: Mar 30, 2019

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