Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NC_012920.1(MT-CO1):m.6261G>A

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Oct 17, 2019)
Last evaluated:
Oct 17, 2019
Accession:
VCV000235718.4
Variation ID:
235718
Description:
single nucleotide variant
Help

NC_012920.1(MT-CO1):m.6261G>A

Allele ID
237398
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
-
Genomic location
MT: 6261 (GRCh38) GRCh38 UCSC
MT: 6261 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_012920.1:m.6261G>A YP_003024028.1:p.Ala120Thr missense
NC_012920.1:m.6261G>A missense
NC_012920.1:m.6261G>A YP_003024028.1:p.Ala120Thr missense
Protein change
A120T
Other names
-
Canonical SPDI
NC_012920.1:6260:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10581412
dbSNP: rs201262114
VarSome
Help

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 Apr 16, 2019 RCV000224375.3
Benign 1 criteria provided, single submitter Oct 17, 2019 RCV000853953.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely Benign
(Jun 15, 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: SCV000281511.1
Submitted: (May 19, 2016)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Oct 17, 2019)
criteria provided, single submitter
Method: clinical testing
Leigh syndrome
Allele origin: germline
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV000996986.1
Submitted: (Oct 17, 2019)
Evidence details
Comment:
The NC_012920.1:m.6261G>A (YP_003024028.1:p.Ala120Thr) variant in MTCO1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the … (more)
Benign
(Apr 16, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144555.1
Submitted: (Sep 25, 2019)
Evidence details

Functional evidence

Help
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

Help
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 rs201262114...

Help
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 Oct 08, 2021