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:
- Feb 19, 2017
- Most recent Submission:
- May 13, 2023
- Last evaluated:
- Sep 1, 2010
- Accession:
- VCV000030551.3
- Variation ID:
- 30551
- Description:
- single nucleotide variant
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NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys)
- Allele ID
- 39508
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 20q13.32
- Genomic location
- 20: 59030427 (GRCh38) GRCh38 UCSC
- 20: 57605482 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_006886.4:c.35A>G MANE Select NP_008817.1:p.Tyr12Cys missense NR_037929.1:n.739A>G NR_037930.1:n.480A>G NC_000020.11:g.59030427T>C NC_000020.10:g.57605482T>C NG_031871.2:g.6941A>G P56381:p.Tyr12Cys - Protein change
- Y12C
- Other names
- -
- Canonical SPDI
- NC_000020.11:59030426:T:C
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA214974
- UniProtKB: P56381#VAR_066211
- OMIM: 606153.0001
- dbSNP: rs387906929
- VarSome
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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 1, 2010 | RCV000023508.6 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Sep 01, 2010)
|
no assertion criteria provided
Method: literature only
|
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000044799.5
First in ClinVar: Apr 04, 2013 Last updated: May 13, 2023 |
Comment on evidence:
In a 22-year-old Austrian woman with mitochondrial complex V deficiency (MC5DN3; 614053), Mayr et al. (2010) identified a homozygous c.35A-G transition in exon 2 of … (more)
In a 22-year-old Austrian woman with mitochondrial complex V deficiency (MC5DN3; 614053), Mayr et al. (2010) identified a homozygous c.35A-G transition in exon 2 of the ATP5E gene, resulting in a tyr12-to-cys (Y12C) substitution at a highly conserved position. The healthy, nonconsanguineous parents were heterozygous for the mutation, which was not found in 180 Austrian control chromosomes. In 2 unrelated patients (P2 and P3) with MC5DN3, Zech et al. (2022) identified a homozygous Y12C mutation (c.35A-G, NM_006886.4) in the ATP5F1E gene. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in both families. Fibroblasts from patient 2 showed decreased amounts of the ATPase marker ATP5F1A (164360) and reduced oxygen consumption rate, consistent with a mitochondrial defect. (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 |
|---|---|---|---|---|
| Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. | Zech M | Annals of neurology | 2022 | PMID: 34954817 |
| Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. | Mayr JA | Human molecular genetics | 2010 | PMID: 20566710 |
Text-mined citations for rs387906929...
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 May 13, 2023