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NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
May 16, 2022
Most recent Submission:
May 16, 2022
Last evaluated:
Oct 11, 2021
Accession:
VCV001032892.3
Variation ID:
1032892
Description:
single nucleotide variant
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NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter)

Allele ID
1019571
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218661940 (GRCh38) GRCh38 UCSC
2: 219526663 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.642G>A MANE Select NP_001073335.1:p.Trp214Ter nonsense
NM_001257342.2:c.642G>A NP_001244271.1:p.Trp214Ter nonsense
NM_001257343.2:c.642G>A NP_001244272.1:p.Trp214Ter nonsense
... more HGVS
Protein change
W47*, W94*, W214*
Other names
-
Canonical SPDI
NC_000002.12:218661939:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Links
dbSNP: rs754414954
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 Oct 11, 2021 RCV001382742.2
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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
(Oct 11, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001581645.2
First in ClinVar: May 10, 2021
Last updated: May 16, 2022
Publications:
PubMed (6)
Comment:
This sequence change creates a premature translational stop signal (p.Trp214*) in the BCS1L gene. It is expected to result in an absent or disrupted protein … (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
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. Zhang J Gene 2015 PMID: 25895478
BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency. Lynn AM Annals of clinical biochemistry 2012 PMID: 22277166
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. Ramos-Arroyo MA Clinical genetics 2009 PMID: 19508421
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. Blázquez A Neuromuscular disorders : NMD 2009 PMID: 19162478
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. Hinson JT The New England journal of medicine 2007 PMID: 17314340
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Visapää I American journal of human genetics 2002 PMID: 12215968

Text-mined citations for rs754414954...

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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 May 24, 2022