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NM_001079866.2(BCS1L):c.607dup (p.Arg203fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2
First in ClinVar:
Jan 6, 2017
Most recent Submission:
May 16, 2022
Last evaluated:
Sep 29, 2020
Accession:
VCV000370128.4
Variation ID:
370128
Description:
1bp duplication
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NM_001079866.2(BCS1L):c.607dup (p.Arg203fs)

Allele ID
357241
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218661904-218661905 (GRCh38) GRCh38 UCSC
2: 219526627-219526628 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.607dup MANE Select NP_001073335.1:p.Arg203fs frameshift
NM_001257342.2:c.607dup NP_001244271.1:p.Arg203fs frameshift
NM_001257343.2:c.607dup NP_001244272.1:p.Arg203fs frameshift
... more HGVS
Protein change
R83fs, R203fs, R36fs
Other names
-
Canonical SPDI
NC_000002.12:218661904:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA16040862
dbSNP: rs1057516255
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 24, 2015 RCV000410319.1
Pathogenic 1 criteria provided, single submitter Sep 29, 2020 RCV001043703.3
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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 24, 2015)
criteria provided, single submitter
Method: clinical testing
GRACILE syndrome
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000485363.1
First in ClinVar: Jan 06, 2017
Last updated: Jan 06, 2017
Pathogenic
(Sep 29, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001207462.3
First in ClinVar: Apr 15, 2020
Last updated: May 16, 2022
Publications:
PubMed (2)
PubMed: 1731434025895478
Comment:
This sequence change creates a premature translational stop signal (p.Arg203Lysfs*9) 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 rs1057516255...

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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 17, 2022