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NM_001079866.2(BCS1L):c.785_786del (p.Leu261_Ser262insTer)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2
First in ClinVar:
Apr 15, 2018
Most recent Submission:
Mar 28, 2022
Last evaluated:
Mar 17, 2021
Accession:
VCV000520622.3
Variation ID:
520622
Description:
2bp microsatellite
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NM_001079866.2(BCS1L):c.785_786del (p.Leu261_Ser262insTer)

Allele ID
511395
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
2q35
Genomic location
2: 218662571-218662572 (GRCh38) GRCh38 UCSC
2: 219527294-219527295 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.785_786del MANE Select NP_001073335.1:p.Leu261_Ser262insTer nonsense
NM_001257342.2:c.785_786del NP_001244271.1:p.Leu261_Ser262insTer nonsense
NM_001257343.2:c.785_786del NP_001244272.1:p.Leu261_Ser262insTer nonsense
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:218662570:CTCTCT:CTCT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658796174
dbSNP: rs1553597538
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 Mar 11, 2015 RCV000624760.1
Pathogenic 1 criteria provided, single submitter Mar 17, 2021 RCV001868139.1

Clinical features observed in individuals with this variant

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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
(Mar 11, 2015)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Affected status: yes
Allele origin: germline
Ambry Genetics
Accession: SCV000740813.2
First in ClinVar: Apr 15, 2018
Last updated: Apr 15, 2018
Number of individuals with the variant: 1
Clinical Features:
Encephalopathy (present) , Aphasia (present) , Cerebellar ataxia (present) , Tics (present) , Tremor (present) , Elevated hepatic transaminases (present) , Elevated serum creatine phosphokinase … (more)
Sex: male
Ethnicity/Population group: Caucasian
Pathogenic
(Mar 17, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002218984.1
First in ClinVar: Mar 28, 2022
Last updated: Mar 28, 2022
Publications:
PubMed (2)
PubMed: 1731434025895478
Comment:
This sequence change creates a premature translational stop signal (p.Ser262*) 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
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 rs1553597538...

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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