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NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) AND Mitochondrial complex III deficiency nuclear type 1

Clinical significance:Pathogenic (Last evaluated: Apr 10, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001334242.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)]

NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)

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.245C>A (p.Ser82Ter)
HGVS:
  • NC_000002.12:g.218661232C>A
  • NG_008018.1:g.6577C>A
  • NG_033099.1:g.3309G>T
  • NM_001079866.2:c.245C>AMANE SELECT
  • NM_001257342.2:c.245C>A
  • NM_001257343.2:c.245C>A
  • NM_001257344.2:c.245C>A
  • NM_001318836.2:c.-40-174C>A
  • NM_001320717.2:c.245C>A
  • NM_001371443.1:c.245C>A
  • NM_001371444.1:c.245C>A
  • NM_001371446.1:c.245C>A
  • NM_001371447.1:c.245C>A
  • NM_001371448.1:c.245C>A
  • NM_001371449.1:c.245C>A
  • NM_001371450.1:c.245C>A
  • NM_001371451.1:c.-40-174C>A
  • NM_001371452.1:c.-41-527C>A
  • NM_001371453.1:c.-232C>A
  • NM_001371454.1:c.-232C>A
  • NM_001371455.1:c.-232C>A
  • NM_001371456.1:c.-232C>A
  • NM_001374085.1:c.245C>A
  • NM_001374086.1:c.-232C>A
  • NM_004328.5:c.245C>A
  • NP_001073335.1:p.Ser82Ter
  • NP_001244271.1:p.Ser82Ter
  • NP_001244272.1:p.Ser82Ter
  • NP_001244273.1:p.Ser82Ter
  • NP_001307646.1:p.Ser82Ter
  • NP_001358372.1:p.Ser82Ter
  • NP_001358373.1:p.Ser82Ter
  • NP_001358375.1:p.Ser82Ter
  • NP_001358376.1:p.Ser82Ter
  • NP_001358377.1:p.Ser82Ter
  • NP_001358378.1:p.Ser82Ter
  • NP_001358379.1:p.Ser82Ter
  • NP_001361014.1:p.Ser82Ter
  • NP_004319.1:p.Ser82Ter
  • NP_004319.1:p.Ser82Ter
  • LRG_539t1:c.245C>A
  • LRG_539:g.6577C>A
  • LRG_539p1:p.Ser82Ter
  • NC_000002.11:g.219525955C>A
  • NM_004328.4:c.245C>A
  • NR_163955.1:n.1257C>A
Protein change:
S82*
Links:
dbSNP: rs749196764
NCBI 1000 Genomes Browser:
rs749196764
Molecular consequence:
  • NM_001371453.1:c.-232C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371454.1:c.-232C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371455.1:c.-232C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001371456.1:c.-232C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374086.1:c.-232C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318836.2:c.-40-174C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371451.1:c.-40-174C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371452.1:c.-41-527C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_163955.1:n.1257C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001079866.2:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257342.2:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257343.2:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257344.2:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001320717.2:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371443.1:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371444.1:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371446.1:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371447.1:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371448.1:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371449.1:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371450.1:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374085.1:c.245C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004328.5:c.245C>A - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001527034Baylor Geneticscriteria provided, single submitter
Pathogenic
(Apr 10, 2018)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV001527034.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: May 24, 2022

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