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NC_012920.1:m.7486G>A

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2016)
Last evaluated:
Dec 22, 2016
Accession:
VCV000374215.1
Variation ID:
374215
Description:
single nucleotide variant
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NC_012920.1:m.7486G>A

Allele ID
361118
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
-
Genomic location
MT: 7486 (GRCh38) GRCh38 UCSC
MT: 7486 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_012920.1:m.7486G>A
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1556423295
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Dec 22, 2016 RCV000509005.1
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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-TS1 - - GRCh38 17 28

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 22, 2016)
no assertion criteria provided
Method: research
Progressive external ophthalmoplegia
Allele origin: unknown
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal
Accession: SCV000492500.2
Submitted: (Dec 30, 2016)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant. Bacalhau M Neuromuscular disorders : NMD 2018 PMID: 29398297

Record last updated Mar 29, 2019