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NM_004614.5(TK2):c.659T>C (p.Leu220Pro) AND Inborn mitochondrial myopathy

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002223138.1

Allele description [Variation Report for NM_004614.5(TK2):c.659T>C (p.Leu220Pro)]

NM_004614.5(TK2):c.659T>C (p.Leu220Pro)

Gene:
TK2:thymidine kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q21
Genomic location:
Preferred name:
NM_004614.5(TK2):c.659T>C (p.Leu220Pro)
HGVS:
  • NC_000016.10:g.66513771A>G
  • NG_016862.1:g.41642T>C
  • NM_001172643.1:c.566T>C
  • NM_001172644.2:c.584T>C
  • NM_001172645.2:c.605T>C
  • NM_001271934.2:c.512T>C
  • NM_001271935.1:c.397T>C
  • NM_001272050.2:c.368T>C
  • NM_004614.5:c.659T>CMANE SELECT
  • NP_001166114.1:p.Leu189Pro
  • NP_001166115.1:p.Leu195Pro
  • NP_001166116.1:p.Leu202Pro
  • NP_001258863.1:p.Leu171Pro
  • NP_001258864.1:p.Ser133Pro
  • NP_001258979.1:p.Leu123Pro
  • NP_004605.4:p.Leu220Pro
  • NC_000016.9:g.66547674A>G
  • NC_000016.9:g.66547674A>G
  • NM_001172644.2:c.584T>C
  • NR_073520.2:n.1648T>C
Protein change:
L123P
Links:
dbSNP: rs1168827071
NCBI 1000 Genomes Browser:
rs1168827071
Molecular consequence:
  • NM_001172643.1:c.566T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172644.2:c.584T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172645.2:c.605T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271934.2:c.512T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271935.1:c.397T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001272050.2:c.368T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004614.5:c.659T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073520.2:n.1648T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
Unknown function
Observations:
1

Condition(s)

Name:
Inborn mitochondrial myopathy
Synonyms:
Mitochondrial myopathy; Mitochondrial Myopathies
Identifiers:
MONDO: MONDO:0009637; MedGen: C0162670; Human Phenotype Ontology: HP:0003737

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002499629Department of Cardiology, The Fifth Hospital of Shanxi Medical University
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Cardiology, The Fifth Hospital of Shanxi Medical University, SCV002499629.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

The gene sequencing analysis from BGI Clinical Laboratory Center (Shenzhen, China) discovered that the patient had a novel TK2 mutation at c.584T>C. The predicted amino acid change was p. Leu195 Pro. Based on the findings of muscle biopsy and DNA sequencing, the patient was diagnosed as mitochondrial myopathy

Description

DNA mutations of TK2 often affect the function of skeletal muscle, which is associated with a progressive myopathy (mitochondrial myopathy, MM). We found a novel heterozygote TK2 variant (NM_001172644: c.584T>C, p.Leu195Pro) in a Chinese man with mitochondrial myopathy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024