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NM_004614.5(TK2):c.-38A>G AND Mitochondrial disease

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 10, 2025
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:
RCV005359181.1

Allele description [Variation Report for NM_004614.5(TK2):c.-38A>G]

NM_004614.5(TK2):c.-38A>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.-38A>G
HGVS:
  • NC_000016.10:g.66550099T>C
  • NG_016862.1:g.5314A>G
  • NM_001172643.1:c.31+154A>G
  • NM_001172644.2:c.-38A>G
  • NM_001172645.2:c.-38A>G
  • NM_001271934.2:c.-280A>G
  • NM_001271935.1:c.31+154A>G
  • NM_001272050.2:c.-690A>G
  • NM_004614.5:c.-38A>GMANE SELECT
  • NC_000016.9:g.66584002T>C
  • NM_004614.4:c.-38A>G
  • NR_073520.2:n.24A>G
Links:
dbSNP: rs3743716
NCBI 1000 Genomes Browser:
rs3743716
Molecular consequence:
  • NM_001172644.2:c.-38A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001172645.2:c.-38A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001271934.2:c.-280A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001272050.2:c.-690A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004614.5:c.-38A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001172643.1:c.31+154A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271935.1:c.31+154A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_073520.2:n.24A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mitochondrial disease
Synonyms:
Mitochondrial disorder
Identifiers:
MONDO: MONDO:0044970; MeSH: D028361; MedGen: C0751651; Orphanet: 68380

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005911778Genomenon, Inc, Genomenon, Inc
criteria provided, single submitter

(Genomenon Sequence Variant Interpretation Standards)		Benign
(Apr 10, 2025) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedcuration

Details of each submission

From Genomenon, Inc, Genomenon, Inc, SCV005911778.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

TK2 c.-38A>G is located 38 nucleotides upstream of the canonical start codon in the 5′ untranslated region (UTR). It is also described as K30R in the literature. This variant is present at a high allele frequency in gnomAD. In conclusion, we classify TK2 c.-38A>G as a benign variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025