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NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) AND Mitochondrial complex III deficiency nuclear type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2001
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000006541.4

Allele description [Variation Report for NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met)]

NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met)

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.1057G>A (p.Val353Met)
HGVS:
  • NC_000002.12:g.218663183G>A
  • NG_008018.1:g.8528G>A
  • NG_033099.1:g.1358C>T
  • NM_001079866.2:c.1057G>AMANE SELECT
  • NM_001257342.2:c.1057G>A
  • NM_001257343.2:c.1057G>A
  • NM_001257344.2:c.1057G>A
  • NM_001318836.2:c.697G>A
  • NM_001320717.2:c.1057G>A
  • NM_001371443.1:c.1057G>A
  • NM_001371444.1:c.1057G>A
  • NM_001371446.1:c.1057G>A
  • NM_001371447.1:c.1057G>A
  • NM_001371448.1:c.1057G>A
  • NM_001371449.1:c.1057G>A
  • NM_001371450.1:c.1057G>A
  • NM_001371451.1:c.697G>A
  • NM_001371452.1:c.556G>A
  • NM_001371453.1:c.556G>A
  • NM_001371454.1:c.556G>A
  • NM_001371455.1:c.556G>A
  • NM_001371456.1:c.556G>A
  • NM_001374085.1:c.1057G>A
  • NM_001374086.1:c.556G>A
  • NM_004328.5:c.1057G>A
  • NP_001073335.1:p.Val353Met
  • NP_001244271.1:p.Val353Met
  • NP_001244272.1:p.Val353Met
  • NP_001244273.1:p.Val353Met
  • NP_001305765.1:p.Val233Met
  • NP_001307646.1:p.Val353Met
  • NP_001358372.1:p.Val353Met
  • NP_001358373.1:p.Val353Met
  • NP_001358375.1:p.Val353Met
  • NP_001358376.1:p.Val353Met
  • NP_001358377.1:p.Val353Met
  • NP_001358378.1:p.Val353Met
  • NP_001358379.1:p.Val353Met
  • NP_001358380.1:p.Val233Met
  • NP_001358381.1:p.Val186Met
  • NP_001358382.1:p.Val186Met
  • NP_001358383.1:p.Val186Met
  • NP_001358384.1:p.Val186Met
  • NP_001358385.1:p.Val186Met
  • NP_001361014.1:p.Val353Met
  • NP_001361015.1:p.Val186Met
  • NP_004319.1:p.Val353Met
  • LRG_539:g.8528G>A
  • NC_000002.11:g.219527906G>A
  • NR_163955.1:n.2064G>A
  • Q9Y276:p.Val353Met
Protein change:
V186M; VAL353MET
Links:
UniProtKB: Q9Y276#VAR_018164; OMIM: 603647.0004; dbSNP: rs121908574
NCBI 1000 Genomes Browser:
rs121908574
Molecular consequence:
  • NM_001079866.2:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.2064G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mitochondrial complex III deficiency nuclear type 1
Identifiers:
MONDO: MONDO:0007415; MedGen: C3541471; Orphanet: 254902; OMIM: 124000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026724OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2001) 		germlineliterature only

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

Help

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, SCV000026724.3

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

Description

For discussion of the val353-to-met (V353M) mutation in the BCS1L gene that was found in complex heterozygous state in a boy with complex III deficiency (MC3DN1; 124000) by de Lonlay et al. (2001), see 603647.0003.

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

Last Updated: Jun 17, 2024