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NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1); Likely pathogenic(2); Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5
First in ClinVar:
Sep 14, 2015
Most recent Submission:
Mar 28, 2022
Last evaluated:
Dec 8, 2021
Accession:
VCV000006174.5
Variation ID:
6174
Description:
single nucleotide variant
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NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)

Allele ID
21213
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218661845 (GRCh38) GRCh38 UCSC
2: 219526568 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.547C>T MANE Select NP_001073335.1:p.Arg183Cys missense
NM_001257342.2:c.547C>T NP_001244271.1:p.Arg183Cys missense
NM_001257343.2:c.547C>T NP_001244272.1:p.Arg183Cys missense
... more HGVS
Protein change
R183C, R63C, R16C
Other names
-
Canonical SPDI
NC_000002.12:218661844:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00008
The Genome Aggregation Database (gnomAD) 0.00016
Links
ClinGen: CA118041
UniProtKB: Q9Y276#VAR_064617
OMIM: 603647.0012
dbSNP: rs144885874
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 8, 2021 RCV000521027.3
Likely pathogenic 2 criteria provided, single submitter Dec 15, 2014 RCV000006550.8
Uncertain significance 1 criteria provided, single submitter Apr 24, 2018 RCV000674245.1
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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
Likely pathogenic
(Dec 15, 2014)
criteria provided, single submitter
Method: clinical testing
Mitochondrial complex III deficiency
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin: germline
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine
Study: CSER-MedSeq
Accession: SCV000245582.1
First in ClinVar: Sep 14, 2015
Last updated: Sep 14, 2015
Publications:
PubMed (1)
PubMed: 17403714
Comment:
The p.Arg183Cys variant in BCS1L has been identified in 1 compound heterozygous individual with Mitochondrial complex III deficiency (Fernandez-Vizarra 2007). The p.Arg183Cys variant has been … (more)
Number of individuals with the variant: 1
Uncertain significance
(Apr 24, 2018)
criteria provided, single submitter
Method: clinical testing
GRACILE syndrome
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000799548.1
First in ClinVar: Aug 05, 2018
Last updated: Aug 05, 2018
Publications:
PubMed (1)
PubMed: 17403714
Pathogenic
(Oct 30, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000617286.2
First in ClinVar: Dec 19, 2017
Last updated: Apr 17, 2019
Comment:
The R183C pathogenic variant in the BCS1L gene has been reported previously in combination with another BCS1L variant in an individual with early-onset encephalopathy and … (more)
Likely pathogenic
(Dec 08, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002265125.1
First in ClinVar: Mar 28, 2022
Last updated: Mar 28, 2022
Publications:
PubMed (2)
PubMed: 1740371417314340
Comment:
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 183 of the BCS1L protein … (more)
Pathogenic
(May 15, 2007)
no assertion criteria provided
Method: literature only
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000026733.3
First in ClinVar: Apr 04, 2013
Last updated: Jan 23, 2017
Publications:
PubMed (1)
PubMed: 17403714
Comment on evidence:
For discussion of the arg183-to-cys (R183C) mutation in the BCS1L gene that was found in compound heterozygous state in a girl with mitochondrial complex III … (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
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Fernandez-Vizarra E Human molecular genetics 2007 PMID: 17403714
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. Hinson JT The New England journal of medicine 2007 PMID: 17314340

Text-mined citations for rs144885874...

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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 Apr 25, 2022