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NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2
First in ClinVar:
Jan 7, 2017
Most recent Submission:
May 16, 2022
Last evaluated:
Aug 26, 2021
Accession:
VCV000371250.6
Variation ID:
371250
Description:
single nucleotide variant
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NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)

Allele ID
357240
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218661854 (GRCh38) GRCh38 UCSC
2: 219526577 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.556C>T MANE Select NP_001073335.1:p.Arg186Ter nonsense
NM_001257342.2:c.556C>T NP_001244271.1:p.Arg186Ter nonsense
NM_001257343.2:c.556C>T NP_001244272.1:p.Arg186Ter nonsense
... more HGVS
Protein change
R186*, R66*, R19*
Other names
-
Canonical SPDI
NC_000002.12:218661853:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA2109694
dbSNP: rs779331797
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 Aug 14, 2016 RCV000409533.1
Pathogenic 1 criteria provided, single submitter Aug 26, 2021 RCV001050600.5
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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
(Aug 14, 2016)
criteria provided, single submitter
Method: clinical testing
GRACILE syndrome
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000486785.1
First in ClinVar: Jan 07, 2017
Last updated: Jan 07, 2017
Publications:
PubMed (1)
PubMed: 25895478
Pathogenic
(Aug 26, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001214715.3
First in ClinVar: Apr 15, 2020
Last updated: May 16, 2022

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

Text-mined citations for rs779331797...

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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 Aug 24, 2022