U.S. flag

An official website of the United States government

NM_001079866.2(BCS1L):c.399del (p.Glu133fs) AND BCS1L-Related Disorders

Clinical significance:Uncertain significance (Last evaluated: Aug 22, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000778594.2

Allele description [Variation Report for NM_001079866.2(BCS1L):c.399del (p.Glu133fs)]

NM_001079866.2(BCS1L):c.399del (p.Glu133fs)

Gene:
BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001079866.2(BCS1L):c.399del (p.Glu133fs)
HGVS:
  • NC_000002.12:g.218661484del
  • NG_008018.1:g.6829del
  • NG_033099.1:g.3058del
  • NM_001079866.2:c.399delMANE SELECT
  • NM_001257342.2:c.399del
  • NM_001257343.2:c.399del
  • NM_001257344.2:c.399del
  • NM_001318836.2:c.39del
  • NM_001320717.2:c.399del
  • NM_001371443.1:c.399del
  • NM_001371444.1:c.399del
  • NM_001371446.1:c.399del
  • NM_001371447.1:c.399del
  • NM_001371448.1:c.399del
  • NM_001371449.1:c.399del
  • NM_001371450.1:c.399del
  • NM_001371451.1:c.39del
  • NM_001371452.1:c.-41-275del
  • NM_001371453.1:c.-78del
  • NM_001371454.1:c.-78del
  • NM_001371455.1:c.-78del
  • NM_001371456.1:c.-78del
  • NM_001374085.1:c.399del
  • NM_001374086.1:c.-78del
  • NM_004328.5:c.399del
  • NP_001073335.1:p.Glu133fs
  • NP_001244271.1:p.Glu133fs
  • NP_001244272.1:p.Glu133fs
  • NP_001244273.1:p.Glu133fs
  • NP_001305765.1:p.Glu13fs
  • NP_001307646.1:p.Glu133fs
  • NP_001358372.1:p.Glu133fs
  • NP_001358373.1:p.Glu133fs
  • NP_001358375.1:p.Glu133fs
  • NP_001358376.1:p.Glu133fs
  • NP_001358377.1:p.Glu133fs
  • NP_001358378.1:p.Glu133fs
  • NP_001358379.1:p.Glu133fs
  • NP_001358380.1:p.Glu13fs
  • NP_001361014.1:p.Glu133fs
  • NP_004319.1:p.Glu133fs
  • LRG_539t1:c.399del
  • LRG_539:g.6829del
  • NC_000002.11:g.219526206del
  • NC_000002.11:g.219526207del
  • NM_004328.4:c.399del
  • NM_004328.4:c.399delA
  • NR_163955.1:n.1411del
Protein change:
E133fs
Links:
dbSNP: rs751484879
NCBI 1000 Genomes Browser:
rs751484879
Molecular consequence:
  • NM_001371453.1:c.-78del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371454.1:c.-78del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371455.1:c.-78del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371456.1:c.-78del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374086.1:c.-78del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001079866.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257342.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257343.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257344.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318836.2:c.39del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320717.2:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371443.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371444.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371446.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371447.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371448.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371449.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371450.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371451.1:c.39del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374085.1:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004328.5:c.399del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371452.1:c.-41-275del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_163955.1:n.1411del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
BCS1L-Related Disorders
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
SCV000914901Illumina Laboratory Services,Illuminacriteria provided, single submitter
Uncertain significance
(Aug 22, 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

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

Tegelberg S, Tomašić N, Kallijärvi J, Purhonen J, Elmér E, Lindberg E, Nord DG, Soller M, Lesko N, Wedell A, Bruhn H, Freyer C, Stranneheim H, Wibom R, Nennesmo I, Wredenberg A, Eklund EA, Fellman V.

Orphanet J Rare Dis. 2017 Apr 20;12(1):73. doi: 10.1186/s13023-017-0624-2.

PubMed [citation]
PMID:
28427446
PMCID:
PMC5399415

Details of each submission

From Illumina Laboratory Services,Illumina, SCV000914901.1

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

Description

The BCS1L c.399delA (p.Glu133AspfsTer25) variant has been reported in one study and is found in one individual with complex III deficiency in a compound heterozygous state with a missense variant. The variant was also present in the unaffected mother in a heterozygous state (Tegelberg et al. 2017). Control data are unavailable for the p.Glu133AspfsTer25 variant, which is reported at a frequency of 0.00036 in the European American population of the Exome Sequencing Project. Based on the limited evidence, the p.Glu133AspfsTer25 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: Apr 23, 2022

Support Center