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NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4
First in ClinVar:
Apr 27, 2014
Most recent Submission:
May 21, 2022
Last evaluated:
Jan 19, 2022
Accession:
VCV000006170.5
Variation ID:
6170
Description:
single nucleotide variant
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NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)

Allele ID
21209
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218661846 (GRCh38) GRCh38 UCSC
2: 219526569 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.548G>A MANE Select NP_001073335.1:p.Arg183His missense
NM_001257342.2:c.548G>A NP_001244271.1:p.Arg183His missense
NM_001257343.2:c.548G>A NP_001244272.1:p.Arg183His missense
... more HGVS
Protein change
R183H, R63H, R16H
Other names
-
Canonical SPDI
NC_000002.12:218661845:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA118021
UniProtKB: Q9Y276#VAR_032089
OMIM: 603647.0008
dbSNP: rs121908577
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 Feb 1, 2018 RCV000779835.1
Pathogenic 1 criteria provided, single submitter Jan 19, 2022 RCV002243624.2
Pathogenic 1 no assertion criteria provided Feb 22, 2007 RCV000006545.4
Pathogenic 1 no assertion criteria provided Jul 6, 2021 RCV001835622.1
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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
Pathogenic
(Feb 01, 2018)
criteria provided, single submitter
Method: clinical testing
Leigh syndrome
Affected status: unknown
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000916675.1
First in ClinVar: Jun 02, 2019
Last updated: Jun 02, 2019
Publications:
PubMed (5)
Comment:
Variant summary: BCS1L c.548G>A (p.Arg183His) results in a non-conservative amino acid change located in the N-terminal BCS1 domain of the encoded protein sequence. Five of … (more)
Pathogenic
(Jan 19, 2022)
criteria provided, single submitter
Method: clinical testing
Mitochondrial complex III deficiency nuclear type 1
Affected status: yes
Allele origin: germline
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002512446.1
First in ClinVar: May 21, 2022
Last updated: May 21, 2022
Comment:
ACMG classification criteria: PS3 supporting, PS4 strong, PM2 moderate, PM3 moderate, PP1 moderate, PP3 supporting
Geographic origin: Brazil
Pathogenic
(Feb 22, 2007)
no assertion criteria provided
Method: literature only
BJORNSTAD SYNDROME
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000026728.3
First in ClinVar: Apr 04, 2013
Last updated: Apr 27, 2014
Publications:
PubMed (2)
PubMed: 954540717314340
Comment on evidence:
In affected members of the family with Bjornstad syndrome (BJS; 262000) in which Lubianca Neto et al. (1998) demonstrated linkage to 2q, Hinson et al. … (more)
Pathogenic
(Jul 06, 2021)
no assertion criteria provided
Method: clinical testing
GRACILE syndrome
Affected status: unknown
Allele origin: germline
Natera, Inc.
Accession: SCV002076351.1
First in ClinVar: Feb 13, 2022
Last updated: Feb 13, 2022

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
Nuclear gene mutations as the cause of mitochondrial complex III deficiency. Fernández-Vizarra E Frontiers in genetics 2015 PMID: 25914718
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. Zhang J Gene 2015 PMID: 25895478
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. Siddiqi S Journal of human genetics 2013 PMID: 24172246
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. Gil-Borlado MC Mitochondrion 2009 PMID: 19389488
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. Hinson JT The New England journal of medicine 2007 PMID: 17314340
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. Lubianca Neto JF American journal of human genetics 1998 PMID: 9545407

Text-mined citations for rs121908577...

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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 Jun 24, 2022