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NM_004046.6(ATP5F1A):c.962A>G (p.Tyr321Cys) AND Combined oxidative phosphorylation deficiency 22

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 7, 2013
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:
RCV000144489.8

Allele description [Variation Report for NM_004046.6(ATP5F1A):c.962A>G (p.Tyr321Cys)]

NM_004046.6(ATP5F1A):c.962A>G (p.Tyr321Cys)

Gene:
ATP5F1A:ATP synthase F1 subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.1
Genomic location:
Preferred name:
NM_004046.6(ATP5F1A):c.962A>G (p.Tyr321Cys)
HGVS:
  • NC_000018.10:g.46087222T>C
  • NG_041769.2:g.27012A>G
  • NM_001001935.3:c.812A>G
  • NM_001001937.2:c.962A>G
  • NM_001257334.2:c.896A>G
  • NM_001257335.2:c.812A>G
  • NM_004046.6:c.962A>GMANE SELECT
  • NP_001001935.1:p.Tyr271Cys
  • NP_001001937.1:p.Tyr321Cys
  • NP_001244263.1:p.Tyr299Cys
  • NP_001244264.1:p.Tyr271Cys
  • NP_004037.1:p.Tyr321Cys
  • NC_000018.9:g.43667188T>C
  • NM_004046.5:c.962A>G
  • P25705:p.Tyr321Cys
Protein change:
Y271C; TYR321CYS
Links:
UniProtKB: P25705#VAR_071982; OMIM: 164360.0002; dbSNP: rs587777788
NCBI 1000 Genomes Browser:
rs587777788
Molecular consequence:
  • NM_001001935.3:c.812A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001937.2:c.962A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257334.2:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257335.2:c.812A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004046.6:c.962A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Combined oxidative phosphorylation deficiency 22 (COXPD22)
Identifiers:
MONDO: MONDO:0020727; MedGen: C4015062; OMIM: 616045

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189820OMIM
no assertion criteria provided
Pathogenic
(May 7, 2013) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Targeted exome sequencing of suspected mitochondrial disorders.

Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK.

Neurology. 2013 May 7;80(19):1762-70. doi: 10.1212/WNL.0b013e3182918c40. Epub 2013 Apr 17.

PubMed [citation]
PMID:
23596069
PMCID:
PMC3719425

Details of each submission

From OMIM, SCV000189820.7

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

Description

In 2 sisters, born of consanguineous Moroccan parents, with combined oxidative phosphorylation deficiency (COXPD22; 616045) resulting in early death, Lieber et al. (2013) identified a homozygous c.962A-G transition in the ATP5A1 gene, resulting in a tyr321-to-cys (Y321C) substitution at a highly conserved residue. The variant, which was found by targeted exome sequencing of the mitochondrial genome and nuclear-encoded genes implicated in mitochondrial biology, was not present in the 1000 Genomes Project or Exome Variant Server databases. The unaffected mother was heterozygous for the mutation; DNA from the father was unavailable. Expression of the analogous mutation in yeast resulted in an increased rate of mtDNA loss and a 2-fold decrease in mitochondrial membrane potential compared to wildtype.

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

Last Updated: May 13, 2023