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NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) AND Mitochondrial complex III deficiency nuclear type 1

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2001)

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:
RCV000006539.5

Allele description [Variation Report for NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)]

NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)

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.296C>T (p.Pro99Leu)
HGVS:
  • NC_000002.12:g.218661283C>T
  • NG_008018.1:g.6628C>T
  • NG_033099.1:g.3258G>A
  • NM_001079866.2:c.296C>TMANE SELECT
  • NM_001257342.2:c.296C>T
  • NM_001257343.2:c.296C>T
  • NM_001257344.2:c.296C>T
  • NM_001318836.2:c.-40-123C>T
  • NM_001320717.2:c.296C>T
  • NM_001371443.1:c.296C>T
  • NM_001371444.1:c.296C>T
  • NM_001371446.1:c.296C>T
  • NM_001371447.1:c.296C>T
  • NM_001371448.1:c.296C>T
  • NM_001371449.1:c.296C>T
  • NM_001371450.1:c.296C>T
  • NM_001371451.1:c.-40-123C>T
  • NM_001371452.1:c.-41-476C>T
  • NM_001371453.1:c.-181C>T
  • NM_001371454.1:c.-181C>T
  • NM_001371455.1:c.-181C>T
  • NM_001371456.1:c.-181C>T
  • NM_001374085.1:c.296C>T
  • NM_001374086.1:c.-181C>T
  • NM_004328.5:c.296C>T
  • NP_001073335.1:p.Pro99Leu
  • NP_001244271.1:p.Pro99Leu
  • NP_001244272.1:p.Pro99Leu
  • NP_001244273.1:p.Pro99Leu
  • NP_001307646.1:p.Pro99Leu
  • NP_001358372.1:p.Pro99Leu
  • NP_001358373.1:p.Pro99Leu
  • NP_001358375.1:p.Pro99Leu
  • NP_001358376.1:p.Pro99Leu
  • NP_001358377.1:p.Pro99Leu
  • NP_001358378.1:p.Pro99Leu
  • NP_001358379.1:p.Pro99Leu
  • NP_001361014.1:p.Pro99Leu
  • NP_004319.1:p.Pro99Leu
  • NP_004319.1:p.Pro99Leu
  • LRG_539t1:c.296C>T
  • LRG_539:g.6628C>T
  • LRG_539p1:p.Pro99Leu
  • NC_000002.11:g.219526006C>T
  • NM_004328.4:c.296C>T
  • NR_163955.1:n.1308C>T
  • Q9Y276:p.Pro99Leu
Protein change:
P99L; PRO99LEU
Links:
UniProtKB: Q9Y276#VAR_018159; OMIM: 603647.0002; dbSNP: rs121908572
NCBI 1000 Genomes Browser:
rs121908572
Molecular consequence:
  • NM_001371453.1:c.-181C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371454.1:c.-181C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371455.1:c.-181C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371456.1:c.-181C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374086.1:c.-181C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318836.2:c.-40-123C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371451.1:c.-40-123C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371452.1:c.-41-476C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079866.2:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1308C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026722OMIMno assertion criteria providedPathogenic
(Sep 1, 2001)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

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

Details of each submission

From OMIM, SCV000026722.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 patients with complex III deficiency nuclear type 1 (MC3DN1; 124000), a boy and a girl, born to unrelated consanguineous families, de Lonlay et al. (2001) identified the same homozygous C-to-T transition at nucleotide 296 in exon 1 of the BCS1L gene, causing the substitution of a leucine for a highly conserved proline at codon 99 (P99L). The patients had metabolic acidosis, hepatic involvement, neurologic deterioration, and brainstem and basal ganglia lesions consistent with a diagnosis of Leigh syndrome (see 256000). One patient had abnormal ventilation patterns and proximal renal tubulopathy.

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

Last Updated: Aug 23, 2022

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