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NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2
First in ClinVar:
Apr 27, 2014
Most recent Submission:
Mar 28, 2022
Last evaluated:
Sep 1, 2021
Accession:
VCV000006168.4
Variation ID:
6168
Description:
single nucleotide variant
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NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys)

Allele ID
21207
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218661120 (GRCh38) GRCh38 UCSC
2: 219525843 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.133C>T MANE Select NP_001073335.1:p.Arg45Cys missense
NM_001257342.2:c.133C>T NP_001244271.1:p.Arg45Cys missense
NM_001257343.2:c.133C>T NP_001244272.1:p.Arg45Cys missense
... more HGVS
Protein change
R45C
Other names
-
Canonical SPDI
NC_000002.12:218661119:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA118010
UniProtKB: Q9Y276#VAR_032087
OMIM: 603647.0006
dbSNP: rs121908575
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 1, 2021 RCV001851700.3
Pathogenic 1 no assertion criteria provided Jun 1, 2009 RCV000006543.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BCS1L - - GRCh38
GRCh37
294 323

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Sep 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002240635.1
First in ClinVar: Mar 28, 2022
Last updated: Mar 28, 2022
Pathogenic
(Jun 01, 2009)
no assertion criteria provided
Method: literature only
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000026726.3
First in ClinVar: Apr 04, 2013
Last updated: Apr 27, 2014
Publications:
PubMed (2)
PubMed: 1291049019508421
Comment on evidence:
In 2 Spanish sibs with fatal infantile complex III deficiency (MC3DN1; 124000), De Meirleir et al. (2003) identified compound heterozygosity for mutation in the BCS1L … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. Ramos-Arroyo MA Clinical genetics 2009 PMID: 19508421
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. De Meirleir L American journal of medical genetics. Part A 2003 PMID: 12910490

Text-mined citations for rs121908575...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 24, 2022