U.S. flag

An official website of the United States government

NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) AND BCS1L-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000368540.5

Allele description [Variation Report for NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)]

NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)

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.871C>T (p.Arg291Ter)
Other names:
p.R291*:CGA>TGA
HGVS:
  • NC_000002.12:g.218662661C>T
  • NG_008018.1:g.8006C>T
  • NG_033099.1:g.1880G>A
  • NM_001079866.2:c.871C>TMANE SELECT
  • NM_001257342.2:c.871C>T
  • NM_001257343.2:c.871C>T
  • NM_001257344.2:c.871C>T
  • NM_001318836.2:c.511C>T
  • NM_001320717.2:c.871C>T
  • NM_001371443.1:c.871C>T
  • NM_001371444.1:c.871C>T
  • NM_001371446.1:c.871C>T
  • NM_001371447.1:c.871C>T
  • NM_001371448.1:c.871C>T
  • NM_001371449.1:c.871C>T
  • NM_001371450.1:c.871C>T
  • NM_001371451.1:c.511C>T
  • NM_001371452.1:c.370C>T
  • NM_001371453.1:c.370C>T
  • NM_001371454.1:c.370C>T
  • NM_001371455.1:c.370C>T
  • NM_001371456.1:c.370C>T
  • NM_001374085.1:c.871C>T
  • NM_001374086.1:c.370C>T
  • NM_004328.5:c.871C>T
  • NP_001073335.1:p.Arg291Ter
  • NP_001244271.1:p.Arg291Ter
  • NP_001244272.1:p.Arg291Ter
  • NP_001244273.1:p.Arg291Ter
  • NP_001305765.1:p.Arg171Ter
  • NP_001307646.1:p.Arg291Ter
  • NP_001358372.1:p.Arg291Ter
  • NP_001358373.1:p.Arg291Ter
  • NP_001358375.1:p.Arg291Ter
  • NP_001358376.1:p.Arg291Ter
  • NP_001358377.1:p.Arg291Ter
  • NP_001358378.1:p.Arg291Ter
  • NP_001358379.1:p.Arg291Ter
  • NP_001358380.1:p.Arg171Ter
  • NP_001358381.1:p.Arg124Ter
  • NP_001358382.1:p.Arg124Ter
  • NP_001358383.1:p.Arg124Ter
  • NP_001358384.1:p.Arg124Ter
  • NP_001358385.1:p.Arg124Ter
  • NP_001361014.1:p.Arg291Ter
  • NP_001361015.1:p.Arg124Ter
  • NP_004319.1:p.Arg291Ter
  • NP_004319.1:p.Arg291Ter
  • LRG_539t1:c.871C>T
  • LRG_539:g.8006C>T
  • LRG_539p1:p.Arg291Ter
  • NC_000002.11:g.219527384C>T
  • NM_001079866.1:c.871C>T
  • NM_004328.4:c.871C>T
  • NM_004328.5:c.871C>T
  • NR_163955.1:n.1878C>T
Protein change:
R124*
Links:
dbSNP: rs201454788
NCBI 1000 Genomes Browser:
rs201454788
Molecular consequence:
  • NR_163955.1:n.1878C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001079866.2:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257342.2:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257343.2:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257344.2:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318836.2:c.511C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320717.2:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371443.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371444.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371446.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371447.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371448.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371449.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371450.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371451.1:c.511C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371452.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371453.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371454.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371455.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371456.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374085.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374086.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004328.5:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
BCS1L-related disorder
Synonyms:
BCS1L-Related Disorders; BCS1L-related condition
Identifiers:
MedGen: CN239240

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000427447Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE.

N Engl J Med. 2007 Feb 22;356(8):809-19.

PubMed [citation]
PMID:
17314340

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000427447.3

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

Description

The BCS1L c.871C>T (p.Arg291Ter) variant is a stop-gained variant. The p.Arg291Ter variant has been reported in one study in which it is found in a compound heterozygous state with a missense variant in one individual with Bjornstad syndrome (Hinson et al. 2007). The p.Arg291Ter variant was absent from 300 control chromosomes and is reported at a frequency of 0.00008 in the European (non-Finnish) population of the Exome Aggregation Consortium. Functional complementation studies in yeast showed that the variant failed to support growth on media that require respiratory-chain metabolism (Hinson et al. 2007). The amount of superoxide produced by complex III activity was reduced by 61% in mitochondria in individuals with Bjornstad syndrome while complex I-dependent production of reactive oxygen species was increased by 30%. Due to the potential impact of stop-gained variants and the supporting evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for BCS1L-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Jun 17, 2024