ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Sep 9, 2019
- Most recent Submission:
- Sep 9, 2019
- Last evaluated:
- Sep 3, 2019
- Accession:
- VCV000689394.1
- Variation ID:
- 689394
- Description:
- single nucleotide variant
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NM_013393.3(MRM2):c.565G>A (p.Gly189Arg)
- Allele ID
- 676986
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 7p22.3
- Genomic location
- 7: 2235298 (GRCh38) GRCh38 UCSC
- 7: 2274933 (GRCh37) GRCh37 UCSC
- HGVS
-
Nucleotide Protein Molecular
consequenceNM_013393.3:c.565G>A MANE Select NP_037525.1:p.Gly189Arg missense NC_000007.14:g.2235298C>T NC_000007.13:g.2274933C>T NG_011518.1:g.2651G>A - Protein change
- G189R
- Other names
- -
- Canonical SPDI
- NC_000007.14:2235297:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- OMIM: 606906.0001
- dbSNP: rs1584622847
- VarSome
- Comment on variant
- NCBI staff verified the HGVS expression for this variant from the trace in Figure 2 of the paper by Garone et al., 2017 (PubMed 28973171)
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Sep 3, 2019 | RCV000850108.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Sep 03, 2019)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000992272.1
First in ClinVar: Sep 09, 2019 Last updated: Sep 09, 2019 |
Comment on evidence:
Garone et al. (2017) reported a boy with mitochondrial depletion syndrome 17 (MTDPS17; 618567) who was homozygous for a G-to-A transition at nucleotide 567 of … (more)
Garone et al. (2017) reported a boy with mitochondrial depletion syndrome 17 (MTDPS17; 618567) who was homozygous for a G-to-A transition at nucleotide 567 of the MRM2 gene (c.567G-A, NM_013393) resulting in a gly-to-arg substitution at codon 189 (G189R). This variant was not found in gnomAD. The G189R mutation was found in a 16-kb run of homozygosity and was carried in heterozygosity by both parents. Glycine-189 was conserved in 41 of 44 vertebrate species tested and in S. cerevisiae and E. coli as well. Garone et al. (2017) generated a knockout yeast model for the orthologous gene that showed a defect in respiration and the reduction of 2-prime-O-methyl modification at the position in the yeast mitochondrial 21S rRNA equivalent to the position in the human 16S rRNA that is 2-prime-O-methylated by MRM2. Complementation with the mrm2 allele carrying the equivalent yeast mutation failed to rescue the respiratory phenotype, which was instead completely rescued by expressing the wildtype allele. (less)
|
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 |
|---|---|---|---|---|
| Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. | Garone C | Human molecular genetics | 2017 | PMID: 28973171 |
Text-mined citations for rs1584622847...
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 Apr 25, 2022