NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jul 7, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000197059.2

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]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000251193GeneDxcriteria provided, single submitter
Likely pathogenic
(Jul 7, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000251193.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Arg69Cys (CGC>TGC): c.205 C>T in exon 3 of the BCS1L gene (NM_004328.4). The R69C variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R69C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (R73C, S78G) have been reported as pathogenic mutations, supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).

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

Last Updated: Mar 30, 2019

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