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NM_001079866.2(BCS1L):c.418del (p.Leu140fs) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Oct 15, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001266390.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.418del (p.Leu140fs)]

NM_001079866.2(BCS1L):c.418del (p.Leu140fs)

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.418del (p.Leu140fs)
HGVS:
  • NC_000002.12:g.218661503del
  • NG_008018.1:g.6848del
  • NG_033099.1:g.3040del
  • NM_001079866.2:c.418delMANE SELECT
  • NM_001257342.2:c.418del
  • NM_001257343.2:c.418del
  • NM_001257344.2:c.418del
  • NM_001318836.2:c.58del
  • NM_001320717.2:c.418del
  • NM_001371443.1:c.418del
  • NM_001371444.1:c.418del
  • NM_001371446.1:c.418del
  • NM_001371447.1:c.418del
  • NM_001371448.1:c.418del
  • NM_001371449.1:c.418del
  • NM_001371450.1:c.418del
  • NM_001371451.1:c.58del
  • NM_001371452.1:c.-41-256del
  • NM_001371453.1:c.-59del
  • NM_001371454.1:c.-59del
  • NM_001371455.1:c.-59del
  • NM_001371456.1:c.-59del
  • NM_001374085.1:c.418del
  • NM_001374086.1:c.-59del
  • NM_004328.5:c.418del
  • NP_001073335.1:p.Leu140fs
  • NP_001244271.1:p.Leu140fs
  • NP_001244272.1:p.Leu140fs
  • NP_001244273.1:p.Leu140fs
  • NP_001305765.1:p.Leu20fs
  • NP_001307646.1:p.Leu140fs
  • NP_001358372.1:p.Leu140fs
  • NP_001358373.1:p.Leu140fs
  • NP_001358375.1:p.Leu140fs
  • NP_001358376.1:p.Leu140fs
  • NP_001358377.1:p.Leu140fs
  • NP_001358378.1:p.Leu140fs
  • NP_001358379.1:p.Leu140fs
  • NP_001358380.1:p.Leu20fs
  • NP_001361014.1:p.Leu140fs
  • NP_004319.1:p.Leu140fs
  • LRG_539:g.6848del
  • NC_000002.11:g.219526224del
  • NC_000002.11:g.219526226del
  • NM_004328.4:c.418delC
  • NR_163955.1:n.1430del
Protein change:
L140fs
Links:
dbSNP: rs1057517412
NCBI 1000 Genomes Browser:
rs1057517412
Molecular consequence:
  • NM_001371453.1:c.-59del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371454.1:c.-59del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371455.1:c.-59del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371456.1:c.-59del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374086.1:c.-59del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001079866.2:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257342.2:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257343.2:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257344.2:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318836.2:c.58del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320717.2:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371443.1:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371444.1:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371446.1:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371447.1:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371448.1:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371449.1:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371450.1:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371451.1:c.58del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374085.1:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004328.5:c.418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371452.1:c.-41-256del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_163955.1:n.1430del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001444564Ambry Geneticscriteria provided, single submitter
Pathogenic
(Oct 15, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001444564.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022

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