NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys) AND Inborn genetic diseases

Clinical significance:Likely pathogenic (Last evaluated: Mar 11, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000623904.1

Allele description [Variation Report for NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys)]

NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys)

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_004328.4(BCS1L):c.205C>T (p.Arg69Cys)
Other names:
p.R69C:CGC>TGC
HGVS:
  • NC_000002.12:g.218661192C>T
  • NG_008018.1:g.6537C>T
  • NM_001257344.1:c.205C>T
  • NM_001318836.1:c.-40-214C>T
  • NM_004328.4:c.205C>T
  • NP_001244273.1:p.Arg69Cys
  • NP_004319.1:p.Arg69Cys
  • LRG_539t1:c.205C>T
  • LRG_539t2:c.205C>T
  • LRG_539:g.6537C>T
  • LRG_539p1:p.Arg69Cys
  • LRG_539p2:p.Arg69Cys
  • NC_000002.11:g.219525915C>T
Protein change:
R69C
Links:
dbSNP: rs377025174
NCBI 1000 Genomes Browser:
rs377025174
Molecular consequence:
  • NM_001318836.1:c.-40-214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004328.4:c.205C>T - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000740812Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Mar 11, 2015)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
European-origin,Asian-origingermlineyes1not providednot provided1yesclinical testing

Citations

PubMed

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chrétien D, Kadhom N, Lombès A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rötig A.

Nat Genet. 2001 Sep;29(1):57-60.

PubMed [citation]
PMID:
11528392

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
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000740812.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European-origin,Asian-origin1not providedyesclinical testing PubMed (5)

Description

Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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