NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter) AND Mitochondrial complex III deficiency

Clinical significance:Pathogenic (Last evaluated: May 1, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000415338.1

Allele description [Variation Report for NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter)]

NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter)

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.598C>T (p.Arg200Ter)
HGVS:
  • NC_000002.12:g.218661896C>T
  • NG_008018.1:g.7241C>T
  • NM_001257344.1:c.598C>T
  • NM_004328.4:c.598C>T
  • NP_001244273.1:p.Arg200Ter
  • NP_004319.1:p.Arg200Ter
  • LRG_539t1:c.598C>T
  • LRG_539t2:c.598C>T
  • LRG_539:g.7241C>T
  • LRG_539p1:p.Arg200Ter
  • LRG_539p2:p.Arg200Ter
  • NC_000002.11:g.219526619C>T
Protein change:
R200*
Links:
dbSNP: rs776838028
NCBI 1000 Genomes Browser:
rs776838028
Molecular consequence:
  • NM_004328.4:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Mitochondrial complex III deficiency (MC3DN1)
Synonyms:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; Mitochondrial complex III deficiency, nuclear type 1
Identifiers:
MedGen: C3541471; Orphanet: 254902; OMIM: 124000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000328851Baylor Miraca Genetics Laboratories,no assertion criteria providedPathogenic
(May 1, 2016)
paternal, germlineclinical testing

Summary from all submissions

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

Details of each submission

From Baylor Miraca Genetics Laboratories,, SCV000328851.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

Our laboratory reported dual molecular diagnoses in BCS1L (NM_004328.4:c.598C>T; NM_004328.4:c.205C>T ; in trans) and NLGN4X (NM_181332.1:c.301C>T) in an individual with short stature, failure to thrive, rickets, Fanconi syndrome, delayed motor milestones, absent speech, developmental regression, intellectual disability, hypotonia, seizure disorder, gait ataxia, abnormal movements (laughing behavior and tongue protrusion), dysmorphic features, microcephaly, history of seizure disorder.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2019

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