U.S. flag

An official website of the United States government

NM_004614.5(TK2):c.323C>T (p.Thr108Met) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2023
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:
RCV003883499.1

Allele description [Variation Report for NM_004614.5(TK2):c.323C>T (p.Thr108Met)]

NM_004614.5(TK2):c.323C>T (p.Thr108Met)

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.323C>T (p.Thr108Met)
Other names:
p.T108M:ACG>ATG
HGVS:
  • NC_000016.10:g.66531432G>A
  • NG_016862.1:g.23981C>T
  • NM_001172643.1:c.230C>T
  • NM_001172644.2:c.248C>T
  • NM_001172645.2:c.269C>T
  • NM_001271934.2:c.176C>T
  • NM_001271935.1:c.230C>T
  • NM_001272050.2:c.32C>T
  • NM_004614.5:c.323C>TMANE SELECT
  • NP_001166114.1:p.Thr77Met
  • NP_001166115.1:p.Thr83Met
  • NP_001166116.1:p.Thr90Met
  • NP_001258863.1:p.Thr59Met
  • NP_001258864.1:p.Thr77Met
  • NP_001258979.1:p.Thr11Met
  • NP_004605.4:p.Thr108Met
  • NC_000016.9:g.66565335G>A
  • NM_001271934.2:c.176C>T
  • NM_004614.4:c.323C>T
  • NR_073520.2:n.1312C>T
  • O00142:p.Thr108Met
Protein change:
T108M; THR108MET
Links:
UniProtKB: O00142#VAR_019420; OMIM: 188250.0003; dbSNP: rs137854431
NCBI 1000 Genomes Browser:
rs137854431
Molecular consequence:
  • NM_001172643.1:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172644.2:c.248C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172645.2:c.269C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271934.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271935.1:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001272050.2:c.32C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004614.5:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073520.2:n.1312C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004101825DECIPHERD-UDD, Universidad del Desarrollo
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 1, 2023) 		maternalresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

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

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, Encina G, Böhme D, Faundes V, Zavala MJ, Hasbún T, Fischer S, Brito F, Araya D, Lira M, de la Cruz J, Astudillo C, Lay-Son G, Cares C, Aracena M, Martin ES, Coban-Akdemir Z, et al.

Eur J Hum Genet. 2024 Oct;32(10):1227-1237. doi: 10.1038/s41431-023-01523-5. Epub 2024 Jan 4.

PubMed [citation]
PMID:
38177409
PMCID:
PMC11499817

Details of each submission

From DECIPHERD-UDD, Universidad del Desarrollo, SCV004101825.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024