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NM_001079866.2(BCS1L):c.610_611del (p.Asp204fs)

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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:
Jul 17, 2020
Accession:
VCV001075999.2
Variation ID:
1075999
Description:
2bp microsatellite
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NM_001079866.2(BCS1L):c.610_611del (p.Asp204fs)

Allele ID
1059181
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
2q35
Genomic location
2: 218661905-218661906 (GRCh38) GRCh38 UCSC
2: 219526628-219526629 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.610_611del MANE Select NP_001073335.1:p.Asp204fs frameshift
NM_001257342.2:c.610_611del NP_001244271.1:p.Asp204fs frameshift
NM_001257343.2:c.610_611del NP_001244272.1:p.Asp204fs frameshift
... more HGVS
Protein change
D204fs, D37fs, D84fs
Other names
-
Canonical SPDI
NC_000002.12:218661904:AGAGA:AGA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jul 17, 2020 RCV001389732.2
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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
(Jul 17, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001591185.2
First in ClinVar: May 10, 2021
Last updated: May 16, 2022
Publications:
PubMed (2)
PubMed: 1731434025895478
Comment:
This sequence change creates a premature translational stop signal (p.Asp204Argfs*7) 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

Record last updated May 17, 2022