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NM_004614.5(TK2):c.619-53A>G AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 10, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001838645.3

Allele description [Variation Report for NM_004614.5(TK2):c.619-53A>G]

NM_004614.5(TK2):c.619-53A>G

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.619-53A>G
HGVS:
  • NC_000016.10:g.66513864T>C
  • NG_016862.1:g.41549A>G
  • NM_001172643.1:c.526-53A>G
  • NM_001172644.2:c.544-53A>G
  • NM_001172645.2:c.565-53A>G
  • NM_001271934.2:c.472-53A>G
  • NM_001271935.1:c.357-53A>G
  • NM_001272050.2:c.328-53A>G
  • NM_004614.5:c.619-53A>GMANE SELECT
  • NC_000016.9:g.66547767T>C
  • NM_004614.4:c.619-53A>G
Links:
dbSNP: rs2241619
NCBI 1000 Genomes Browser:
rs2241619
Molecular consequence:
  • NM_001172643.1:c.526-53A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001172644.2:c.544-53A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001172645.2:c.565-53A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271934.2:c.472-53A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271935.1:c.357-53A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001272050.2:c.328-53A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004614.5:c.619-53A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 (PEOB3)
Synonyms:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3
Identifiers:
MONDO: MONDO:0014898; MedGen: C4310734; Orphanet: 254886; OMIM: 617069

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002098474Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 10, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002098474.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024