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NM_001079866.2(BCS1L):c.418del (p.Leu140fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3
First in ClinVar:
Jan 6, 2017
Most recent Submission:
Mar 28, 2022
Last evaluated:
Nov 5, 2020
Accession:
VCV000371616.3
Variation ID:
371616
Description:
1bp deletion
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NM_001079866.2(BCS1L):c.418del (p.Leu140fs)

Allele ID
357238
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 219526224 (GRCh37) GRCh37 UCSC
2: 218661501 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.418del MANE Select NP_001073335.1:p.Leu140fs frameshift
NM_001257342.2:c.418del NP_001244271.1:p.Leu140fs frameshift
NM_001257343.2:c.418del NP_001244272.1:p.Leu140fs frameshift
... more HGVS
Protein change
L140fs, L20fs
Other names
-
Canonical SPDI
NC_000002.12:218661500:CCC:CC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16040860
dbSNP: rs1057517412
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 3, 2016 RCV000409243.1
Pathogenic 1 criteria provided, single submitter Oct 15, 2019 RCV001266390.1
Pathogenic 1 criteria provided, single submitter Nov 5, 2020 RCV001865274.1

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
Likely pathogenic
(Nov 03, 2016)
criteria provided, single submitter
Method: clinical testing
GRACILE syndrome
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000487240.1
First in ClinVar: Jan 06, 2017
Last updated: Jan 06, 2017
Pathogenic
(Oct 15, 2019)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Affected status: yes
Allele origin: germline
Ambry Genetics
Accession: SCV001444564.1
First in ClinVar: Nov 21, 2020
Last updated: Nov 21, 2020
Number of individuals with the variant: 1
Clinical Features:
Delayed gross motor development (present) , Delayed speech and language development (present) , Generalized hypotonia (present) , Downturned corners of mouth (present)
Sex: male
Ethnicity/Population group: Caucasian
Pathogenic
(Nov 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002180923.1
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.Leu140Trpfs*18) 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 rs1057517412...

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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