NM_002693.2(POLG):c.360G>T (p.Leu120Phe) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 31, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000376637.1

Allele description [Variation Report for NM_002693.2(POLG):c.360G>T (p.Leu120Phe)]

NM_002693.2(POLG):c.360G>T (p.Leu120Phe)

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.360G>T (p.Leu120Phe)
HGVS:
  • NC_000015.10:g.89333395C>A
  • NG_008218.2:g.6401G>T
  • NM_002693.2:c.360G>T
  • NP_002684.1:p.Leu120Phe
  • LRG_765t1:c.360G>T
  • LRG_765:g.6401G>T
  • LRG_765p1:p.Leu120Phe
  • NC_000015.9:g.89876626C>A
Protein change:
L120F
Links:
dbSNP: rs886043905
NCBI 1000 Genomes Browser:
rs886043905
Molecular consequence:
  • NM_002693.2:c.360G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000342568EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(May 31, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000342568.4

#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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