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NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) AND Mitochondrial complex III deficiency nuclear type 1

Clinical significance:Likely pathogenic (Last evaluated: Dec 15, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000006550.8

Allele description [Variation Report for NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)]

NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)

Gene:
BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)
HGVS:
  • NC_000002.12:g.218661845C>T
  • NG_008018.1:g.7190C>T
  • NG_033099.1:g.2696G>A
  • NM_001079866.2:c.547C>TMANE SELECT
  • NM_001257342.2:c.547C>T
  • NM_001257343.2:c.547C>T
  • NM_001257344.2:c.547C>T
  • NM_001318836.2:c.187C>T
  • NM_001320717.2:c.547C>T
  • NM_001371443.1:c.547C>T
  • NM_001371444.1:c.547C>T
  • NM_001371446.1:c.547C>T
  • NM_001371447.1:c.547C>T
  • NM_001371448.1:c.547C>T
  • NM_001371449.1:c.547C>T
  • NM_001371450.1:c.547C>T
  • NM_001371451.1:c.187C>T
  • NM_001371452.1:c.46C>T
  • NM_001371453.1:c.46C>T
  • NM_001371454.1:c.46C>T
  • NM_001371455.1:c.46C>T
  • NM_001371456.1:c.46C>T
  • NM_001374085.1:c.547C>T
  • NM_001374086.1:c.46C>T
  • NM_004328.5:c.547C>T
  • NP_001073335.1:p.Arg183Cys
  • NP_001244271.1:p.Arg183Cys
  • NP_001244272.1:p.Arg183Cys
  • NP_001244273.1:p.Arg183Cys
  • NP_001305765.1:p.Arg63Cys
  • NP_001307646.1:p.Arg183Cys
  • NP_001358372.1:p.Arg183Cys
  • NP_001358373.1:p.Arg183Cys
  • NP_001358375.1:p.Arg183Cys
  • NP_001358376.1:p.Arg183Cys
  • NP_001358377.1:p.Arg183Cys
  • NP_001358378.1:p.Arg183Cys
  • NP_001358379.1:p.Arg183Cys
  • NP_001358380.1:p.Arg63Cys
  • NP_001358381.1:p.Arg16Cys
  • NP_001358382.1:p.Arg16Cys
  • NP_001358383.1:p.Arg16Cys
  • NP_001358384.1:p.Arg16Cys
  • NP_001358385.1:p.Arg16Cys
  • NP_001361014.1:p.Arg183Cys
  • NP_001361015.1:p.Arg16Cys
  • NP_004319.1:p.Arg183Cys
  • NP_004319.1:p.Arg183Cys
  • LRG_539t1:c.547C>T
  • LRG_539:g.7190C>T
  • LRG_539p1:p.Arg183Cys
  • NC_000002.11:g.219526568C>T
  • NM_004328.4:c.547C>T
  • NR_163955.1:n.1559C>T
  • Q9Y276:p.Arg183Cys
Protein change:
R16C; ARG183CYS
Links:
UniProtKB: Q9Y276#VAR_064617; OMIM: 603647.0012; dbSNP: rs144885874
NCBI 1000 Genomes Browser:
rs144885874
Molecular consequence:
  • NM_001079866.2:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1559C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Mitochondrial complex III deficiency nuclear type 1
Synonyms:
Complex 3 mitochondrial respiratory chain deficiency
Identifiers:
MONDO: MONDO:0007415; MedGen: C3541471; Orphanet: 254902; OMIM: 124000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026733OMIMno assertion criteria providedPathogenic
(May 15, 2007)
germlineliterature only

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

SCV000245582Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine - CSER-MedSeqcriteria provided, single submitter
Likely pathogenic
(Dec 15, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing, literature only

Citations

PubMed

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M.

Hum Mol Genet. 2007 May 15;16(10):1241-52. Epub 2007 Apr 2.

PubMed [citation]
PMID:
17403714

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From OMIM, SCV000026733.3

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

Description

For discussion of the arg183-to-cys (R183C) mutation in the BCS1L gene that was found in compound heterozygous state in a girl with mitochondrial complex III deficiency (MC3DN1; 124000) by Fernandez-Vizarra et al. (2007), see 603647.0009

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

From Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine - CSER-MedSeq, SCV000245582.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.Arg183Cys variant in BCS1L has been identified in 1 compound heterozygous individual with Mitochondrial complex III deficiency (Fernandez-Vizarra 2007). The p.Arg183Cys variant has been identified in 0.023% (1/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs144885874). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. In vitro functional studies suggest that this variant impacts protein function (Fernandez-Vizarra 2007). In summary, although additional studies are required to fully establish its clinical significance, the p.Arg183Cys variant is likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Apr 23, 2022

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