NM_004328.4(BCS1L):c.830G>A (p.Ser277Asn) AND Mitochondrial complex III deficiency

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:
RCV000006538.3

Allele description [Variation Report for NM_004328.4(BCS1L):c.830G>A (p.Ser277Asn)]

NM_004328.4(BCS1L):c.830G>A (p.Ser277Asn)

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.830G>A (p.Ser277Asn)
HGVS:
  • NC_000002.12:g.218662620G>A
  • NG_008018.1:g.7965G>A
  • NM_001257344.1:c.830G>A
  • NM_004328.4:c.830G>A
  • NP_001244273.1:p.Ser277Asn
  • NP_004319.1:p.Ser277Asn
  • LRG_539t1:c.830G>A
  • LRG_539t2:c.830G>A
  • LRG_539:g.7965G>A
  • LRG_539p1:p.Ser277Asn
  • LRG_539p2:p.Ser277Asn
  • NC_000002.11:g.219527343G>A
  • Q9Y276:p.Ser277Asn
Protein change:
S277N; SER277ASN
Links:
UniProtKB: Q9Y276#VAR_018162; OMIM: 603647.0001; dbSNP: rs121908571
NCBI 1000 Genomes Browser:
rs121908571
Molecular consequence:
  • NM_004328.4:c.830G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000026721OMIMno 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, SCV000026721.2

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

Description

In 2 affected sibs and 1 fetus in a consanguineous family with mitochondrial complex III deficiency nuclear type 1 (MC3DN1; 124000) characterized by neonatal tubulopathy, encephalopathy, and liver failure, de Lonlay et al. (2001) identified a homozygous 830G-A transition in the BCS1L gene, resulting in a ser277-to-asp (S277N) substitution.

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

Last Updated: Mar 30, 2019

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