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NC_012920.1(MT-TK):m.8344A>G AND MT-TK-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 9, 2023
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:
RCV003492290.1

Allele description [Variation Report for NC_012920.1(MT-TK):m.8344A>G]

NC_012920.1(MT-TK):m.8344A>G

Gene:
MT-TK:mitochondrially encoded tRNA lysine [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-TK):m.8344A>G
Other names:
MTTK*MERRF8334:A8344G
HGVS:
  • NC_012920.1:m.8344A>G
  • NC_012920.1:g.8344A>G
Nucleotide change:
8344A-G
Links:
OMIM: 590060.0001; dbSNP: rs118192098
NCBI 1000 Genomes Browser:
rs118192098
Observations:
2

Condition(s)

Name:
MT-TK-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004242200Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
no assertion criteria provided
Pathogenic
(Mar 9, 2023) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV004242200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providedExtracted DNAnot provided2not providednot providednot provided

Last Updated: Oct 26, 2024