U.S. flag

An official website of the United States government

NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) AND Mitochondrial complex III deficiency nuclear type 1

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jan 5, 2018)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000415338.2

Allele description [Variation Report for NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)]

NM_001079866.2(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_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)
HGVS:
  • NC_000002.12:g.218661896C>T
  • NG_008018.1:g.7241C>T
  • NG_033099.1:g.2645G>A
  • NM_001079866.2:c.598C>TMANE SELECT
  • NM_001257342.2:c.598C>T
  • NM_001257343.2:c.598C>T
  • NM_001257344.2:c.598C>T
  • NM_001318836.2:c.238C>T
  • NM_001320717.2:c.598C>T
  • NM_001371443.1:c.598C>T
  • NM_001371444.1:c.598C>T
  • NM_001371446.1:c.598C>T
  • NM_001371447.1:c.598C>T
  • NM_001371448.1:c.598C>T
  • NM_001371449.1:c.598C>T
  • NM_001371450.1:c.598C>T
  • NM_001371451.1:c.238C>T
  • NM_001371452.1:c.97C>T
  • NM_001371453.1:c.97C>T
  • NM_001371454.1:c.97C>T
  • NM_001371455.1:c.97C>T
  • NM_001371456.1:c.97C>T
  • NM_001374085.1:c.598C>T
  • NM_001374086.1:c.97C>T
  • NM_004328.5:c.598C>T
  • NP_001073335.1:p.Arg200Ter
  • NP_001244271.1:p.Arg200Ter
  • NP_001244272.1:p.Arg200Ter
  • NP_001244273.1:p.Arg200Ter
  • NP_001305765.1:p.Arg80Ter
  • NP_001307646.1:p.Arg200Ter
  • NP_001358372.1:p.Arg200Ter
  • NP_001358373.1:p.Arg200Ter
  • NP_001358375.1:p.Arg200Ter
  • NP_001358376.1:p.Arg200Ter
  • NP_001358377.1:p.Arg200Ter
  • NP_001358378.1:p.Arg200Ter
  • NP_001358379.1:p.Arg200Ter
  • NP_001358380.1:p.Arg80Ter
  • NP_001358381.1:p.Arg33Ter
  • NP_001358382.1:p.Arg33Ter
  • NP_001358383.1:p.Arg33Ter
  • NP_001358384.1:p.Arg33Ter
  • NP_001358385.1:p.Arg33Ter
  • NP_001361014.1:p.Arg200Ter
  • NP_001361015.1:p.Arg33Ter
  • NP_004319.1:p.Arg200Ter
  • NP_004319.1:p.Arg200Ter
  • LRG_539t1:c.598C>T
  • LRG_539:g.7241C>T
  • LRG_539p1:p.Arg200Ter
  • NC_000002.11:g.219526619C>T
  • NM_004328.4:c.598C>T
  • NR_163955.1:n.1610C>T
Protein change:
R200*
Links:
dbSNP: rs776838028
NCBI 1000 Genomes Browser:
rs776838028
Molecular consequence:
  • NR_163955.1:n.1610C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001079866.2:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257342.2:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257343.2:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257344.2:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318836.2:c.238C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320717.2:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371443.1:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371444.1:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371446.1:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371447.1:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371448.1:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371449.1:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371450.1:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371451.1:c.238C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371452.1:c.97C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371453.1:c.97C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371454.1:c.97C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371455.1:c.97C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371456.1:c.97C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374085.1:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374086.1:c.97C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004328.5:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Mitochondrial complex III deficiency nuclear type 1
Synonyms:
Complex 3 mitochondrial respiratory chain deficiency
Identifiers:
MONDO: MONDO:0007415; MedGen: C3541471; Orphanet: 254902; OMIM: 124000

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
SCV000328851Baylor Geneticsno assertion criteria providedPathogenic
(May 1, 2016)
paternal, germlineclinical testing

SCV000796961Counsylno assertion criteria providedLikely pathogenic
(Jan 5, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR.

N Engl J Med. 2017 Jan 5;376(1):21-31. doi: 10.1056/NEJMoa1516767. Epub 2016 Dec 7.

PubMed [citation]
PMID:
27959697
PMCID:
PMC5335876

Details of each submission

From Baylor Genetics, 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

From Counsyl, SCV000796961.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 24, 2022

Support Center