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NM_001085372.3(UQCC3):c.59T>A (p.Val20Glu) AND Mitochondrial complex III deficiency nuclear type 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2014
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:
RCV000148301.2

Allele description [Variation Report for NM_001085372.3(UQCC3):c.59T>A (p.Val20Glu)]

NM_001085372.3(UQCC3):c.59T>A (p.Val20Glu)

Genes:
LBHD1:LBH domain containing 1 [Gene - HGNC]
UQCC3:ubiquinol-cytochrome c reductase complex assembly factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_001085372.3(UQCC3):c.59T>A (p.Val20Glu)
HGVS:
  • NC_000011.10:g.62671804T>A
  • NG_041802.1:g.5151T>A
  • NM_001085372.3:c.59T>AMANE SELECT
  • NP_001078841.1:p.Val20Glu
  • NC_000011.9:g.62439276T>A
  • NM_001085372.2:c.59T>A
  • Q6UW78:p.Val20Glu
Protein change:
V20E; VAL20GLU
Links:
UniProtKB: Q6UW78#VAR_071864; OMIM: 616097.0001; dbSNP: rs606231426
NCBI 1000 Genomes Browser:
rs606231426
Molecular consequence:
  • NM_001085372.3:c.59T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial complex III deficiency nuclear type 9
Identifiers:
MONDO: MONDO:0014496; MedGen: C4015253; OMIM: 616111

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000195689OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2014) 		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

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.

Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA.

Hum Mol Genet. 2014 Dec 1;23(23):6356-65. doi: 10.1093/hmg/ddu357. Epub 2014 Jul 9.

PubMed [citation]
PMID:
25008109

Details of each submission

From OMIM, SCV000195689.1

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

Description

In a girl, born of consanguineous parents, with mitochondrial complex III deficiency nuclear type 9 (MC3DN9; 616111), Wanschers et al. (2014) identified a homozygous c.59T-A transversion in the UQCC3 gene, resulting in a val20-to-glu (V20E) substitution in the transmembrane region. The unaffected parents were heterozygous for the mutation, which was not found in any of the public genome variation databases like dbSNP. Patient cells had severely reduced levels of holocomplex III compared to controls, and UQCC3 protein was undetectable. Radiolabeled studies of patient cells showed an inability to incorporate cytochrome b into complex III.

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

Last Updated: Apr 23, 2022