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NC_012920.1(MT-TK):m.8328G>A AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002248008.1

Allele description [Variation Report for NC_012920.1(MT-TK):m.8328G>A]

NC_012920.1(MT-TK):m.8328G>A

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.8328G>A
HGVS:
  • NC_012920.1:m.8328G>A
  • NC_012920.1:g.8328G>A
Links:
dbSNP: rs2124594549
NCBI 1000 Genomes Browser:
rs2124594549

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002518307Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)
Uncertain significance
(May 4, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV002518307.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023