The NC_012920.1:m.3275C>T variant in MT-TL1 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4, BP4
ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Benign
- Review status:
- criteria provided, single submitter
- Submissions:
- 5
- First in ClinVar:
- Jan 4, 2017
- Most recent Submission:
- Sep 22, 2019
- Last evaluated:
- Jul 12, 2019
- Accession:
- VCV000370045.2
- Variation ID:
- 370045
- Description:
- single nucleotide variant
Help
NC_012920.1:m.3275C>T
- Allele ID
- 354298
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- -
- Genomic location
- MT: 3275 (GRCh38) GRCh38 UCSC
- MT: 3275 (GRCh37) GRCh37 UCSC
- HGVS
-
Nucleotide Protein Molecular
consequenceNC_012920.1:m.3275C>T - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_012920.1:3274:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA16040645
- dbSNP: rs1057516057
- VarSome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Uncertain significance | 1 | no assertion criteria provided | Nov 21, 2016 | RCV000408928.1 | |
| Uncertain significance | 1 | no assertion criteria provided | Nov 21, 2016 | RCV000408950.1 | |
| Uncertain significance | 1 | no assertion criteria provided | Nov 21, 2016 | RCV000408938.1 | |
| Uncertain significance | 1 | no assertion criteria provided | Nov 21, 2016 | RCV000408925.1 | |
| Benign | 1 | criteria provided, single submitter | Jul 12, 2019 | RCV000850706.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Benign
(Jul 12, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Affected status: unknown
Allele origin:
germline
|
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV000992939.1
First in ClinVar: Sep 22, 2019 Last updated: Sep 22, 2019 |
Comment:
The NC_012920.1:m.3275C>T variant in MT-TL1 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following … (more)
The NC_012920.1:m.3275C>T variant in MT-TL1 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4, BP4 (less)
|
|
|
Uncertain significance
(Nov 21, 2016)
|
no assertion criteria provided
Method: clinical testing
|
Affected status: yes
Allele origin:
unknown
|
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
Accession: SCV000484511.1
First in ClinVar: Jan 04, 2017 Last updated: Jan 04, 2017 |
Number of individuals with the variant: 4
Sex: female
Ethnicity/Population group: Caucasian
|
|
|
Uncertain significance
(Nov 21, 2016)
|
no assertion criteria provided
Method: clinical testing
|
Affected status: yes
Allele origin:
unknown
|
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
Accession: SCV000484512.1
First in ClinVar: Jan 04, 2017 Last updated: Jan 04, 2017 |
Number of individuals with the variant: 4
Sex: female
Ethnicity/Population group: Caucasian
|
|
|
Uncertain significance
(Nov 21, 2016)
|
no assertion criteria provided
Method: clinical testing
|
Affected status: yes
Allele origin:
unknown
|
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
Accession: SCV000484513.1
First in ClinVar: Jan 04, 2017 Last updated: Jan 04, 2017 |
Number of individuals with the variant: 4
Sex: female
Ethnicity/Population group: African
|
|
|
Uncertain significance
(Nov 21, 2016)
|
no assertion criteria provided
Method: clinical testing
|
Affected status: yes
Allele origin:
unknown
|
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
Accession: SCV000484514.1
First in ClinVar: Jan 04, 2017 Last updated: Jan 04, 2017 |
Number of individuals with the variant: 1
Sex: female
|
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| 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 |
| In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. | Bacalhau M | European journal of medical genetics | 2017 | PMID: 28027978 |
Text-mined citations for rs1057516057...
HelpThese 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 Dec 11, 2022