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NC_012920.1(MT-CYB):m.15940T>C

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 28, 2019)
Last evaluated:
Jul 12, 2019
Accession:
VCV000690250.1
Variation ID:
690250
Description:
single nucleotide variant
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NC_012920.1(MT-CYB):m.15940T>C

Allele ID
677642
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
-
Genomic location
MT: 15940 (GRCh38) GRCh38 UCSC
MT: 15940 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_012920.1:m.15940T>C
NC_012920.1:m.15940T>C
NC_012920.1:m.15940T>C
Protein change
-
Other names
-
Canonical SPDI
NC_012920.1:15939:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs879197567
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jul 12, 2019 RCV000851144.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MT-TT - - GRCh38 58 58

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 12, 2019)
criteria provided, single submitter
Method: clinical testing
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Allele origin: germline
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV000993378.1
Submitted: (Aug 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The NC_012920.1:m.15940T>C variant in MT-TT gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Interpretation of mitochondrial tRNA variants. Wong LC Genetics in medicine : official journal of the American College of Medical Genetics 2020 PMID: 31965079

Text-mined citations for rs879197567...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 26, 2021