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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 10, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001527034Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 10, 2018) 		maternalclinical testing

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

Help

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: Feb 28, 2024