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NC_012920.1(MT-TH):m.12187C>T AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001175267.1

Allele description [Variation Report for NC_012920.1(MT-TH):m.12187C>T]

NC_012920.1(MT-TH):m.12187C>T

Gene:
MT-TH:mitochondrially encoded tRNA histidine [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-TH):m.12187C>T
HGVS:
NC_012920.1:m.12187C>T
Links:
dbSNP: rs2068730503
NCBI 1000 Genomes Browser:
rs2068730503

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001338865GenomeConnect, ClinGen
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknown2not providednot provided2not providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001338865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided
2not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported most recently on 12-27-2018 Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknown1not providednot provided1not providednot providednot provided
2maternalunknown1not providednot provided1not providednot providednot provided

Last Updated: May 24, 2022