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NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys) AND Mitochondrial complex V (ATP synthase) deficiency nuclear type 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000023508.6

Allele description [Variation Report for NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys)]

NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys)

Genes:
ATP5F1E:ATP synthase F1 subunit epsilon [Gene - OMIM - HGNC]
SLMO2-ATP5E:SLMO2-ATP5E readthrough [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.32
Genomic location:
Preferred name:
NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys)
HGVS:
  • NC_000020.11:g.59030427T>C
  • NG_031871.2:g.6941A>G
  • NM_006886.4:c.35A>GMANE SELECT
  • NP_008817.1:p.Tyr12Cys
  • NC_000020.10:g.57605482T>C
  • NG_031871.1:g.6941A>G
  • NM_006886.4:c.35A>G
  • NR_037929.1:n.739A>G
  • NR_037930.1:n.480A>G
  • P56381:p.Tyr12Cys
Protein change:
Y12C; TYR12CYS
Links:
UniProtKB: P56381#VAR_066211; OMIM: 606153.0001; dbSNP: rs387906929
NCBI 1000 Genomes Browser:
rs387906929
Molecular consequence:
  • NM_006886.4:c.35A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037929.1:n.739A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037930.1:n.480A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mitochondrial complex V (ATP synthase) deficiency nuclear type 3
Synonyms:
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5E TYPE; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3
Identifiers:
MONDO: MONDO:0013547; MedGen: C3279708; Orphanet: 254913; OMIM: 614053

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044799OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2010) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

Mayr JA, Havlícková V, Zimmermann F, Magler I, Kaplanová V, Jesina P, Pecinová A, Nusková H, Koch J, Sperl W, Houstek J.

Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21.

PubMed [citation]
PMID:
20566710

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, Smirnov D, Navaratnarajah T, Rodenburg RJT, Pais LS, Austin-Tse C, O'Leary M, Boesch S, et al.

Ann Neurol. 2022 Feb;91(2):225-237. doi: 10.1002/ana.26293. Epub 2022 Jan 20.

PubMed [citation]
PMID:
34954817
PMCID:
PMC9939050

Details of each submission

From OMIM, SCV000044799.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 13, 2023