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NM_001079866.2(BCS1L):c.399del (p.Glu133fs)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1); Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3
First in ClinVar:
May 27, 2019
Most recent Submission:
Feb 13, 2022
Last evaluated:
Oct 8, 2020
Accession:
VCV000631845.6
Variation ID:
631845
Description:
1bp deletion
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NM_001079866.2(BCS1L):c.399del (p.Glu133fs)

Allele ID
620061
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218661483 (GRCh38) GRCh38 UCSC
2: 219526206 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.399del MANE Select NP_001073335.1:p.Glu133fs frameshift
NM_001257342.2:c.399del NP_001244271.1:p.Glu133fs frameshift
NM_001257343.2:c.399del NP_001244272.1:p.Glu133fs frameshift
... more HGVS
Protein change
E13fs, E133fs
Other names
-
Canonical SPDI
NC_000002.12:218661482:AA:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs751484879
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 22, 2017 RCV000778594.2
Pathogenic 1 criteria provided, single submitter Oct 8, 2020 RCV000801063.3
Pathogenic 1 no assertion criteria provided Dec 15, 2020 RCV001825516.1
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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
Uncertain significance
(Aug 22, 2017)
criteria provided, single submitter
Method: clinical testing
BCS1L-Related Disorders
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000914901.1
First in ClinVar: May 27, 2019
Last updated: May 27, 2019
Publications:
PubMed (1)
PubMed: 28427446
Comment:
The BCS1L c.399delA (p.Glu133AspfsTer25) variant has been reported in one study and is found in one individual with complex III deficiency in a compound heterozygous … (more)
Pathogenic
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000940819.3
First in ClinVar: Aug 14, 2019
Last updated: May 10, 2021
Publications:
PubMed (2)
PubMed: 1731434025895478
Comment:
This sequence change creates a premature translational stop signal (p.Glu133Aspfs*25) in the BCS1L gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Dec 15, 2020)
no assertion criteria provided
Method: clinical testing
GRACILE syndrome
Affected status: unknown
Allele origin: germline
Natera, Inc.
Accession: SCV002076349.1
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
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. Tegelberg S Orphanet journal of rare diseases 2017 PMID: 28427446
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. Zhang J Gene 2015 PMID: 25895478
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 rs751484879...

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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