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NC_012920.1:m.6071T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 31, 2018)
Last evaluated:
May 25, 2018
Accession:
VCV000235696.2
Variation ID:
235696
Description:
single nucleotide variant
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NC_012920.1:m.6071T>C

Allele ID
237376
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
-
Genomic location
MT: 6071 (GRCh38) GRCh38 UCSC
MT: 6071 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_012920.1:m.6071T>C YP_003024028.1:p.Val56= synonymous
NC_012920.1:m.6071T>C YP_003024028.1:p.Val56= synonymous
NC_012920.1:m.6071T>C synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_012920.1:6070:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10581402
dbSNP: rs7340086
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 25, 2018 RCV000224136.2
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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-CO1 - - GRCh38 212 222

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely Benign
(Aug 12, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281473.1
Submitted: (May 19, 2016)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(May 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842805.1
Submitted: (Aug 31, 2018)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs7340086...

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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 Sep 29, 2021