NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) AND not provided

Clinical significance:Benign (Last evaluated: Mar 7, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000676770.1

Allele description [Variation Report for NM_015697.8(COQ2):c.64A>T (p.Arg22Ter)]

NM_015697.8(COQ2):c.64A>T (p.Arg22Ter)

Gene:
COQ2:coenzyme Q2, polyprenyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.23
Genomic location:
Preferred name:
NM_015697.8(COQ2):c.64A>T (p.Arg22Ter)
Other names:
p.R22*:AGA>TGA
HGVS:
  • NC_000004.12:g.83284851T>A
  • NG_015825.1:g.5064A>T
  • NM_015697.8:c.64A>T
  • NP_056512.5:p.Arg22Ter
  • NC_000004.11:g.84206004T>A
  • NM_015697.7:c.64A>T
  • p.Arg22X
Protein change:
R22*
Links:
dbSNP: rs112033303
NCBI 1000 Genomes Browser:
rs112033303
Molecular consequence:
  • NM_015697.8:c.64A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000802571Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedBenign
(Mar 7, 2016)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000802571.1

#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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