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NM_001079866.2(BCS1L):c.821del (p.Pro274fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3
First in ClinVar:
Aug 5, 2018
Most recent Submission:
May 16, 2022
Last evaluated:
Aug 26, 2021
Accession:
VCV000555982.9
Variation ID:
555982
Description:
1bp deletion
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NM_001079866.2(BCS1L):c.821del (p.Pro274fs)

Allele ID
541746
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218662608 (GRCh38) GRCh38 UCSC
2: 219527331 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.821del MANE Select NP_001073335.1:p.Pro274fs frameshift
NM_001257342.2:c.821del NP_001244271.1:p.Pro274fs frameshift
NM_001257343.2:c.821del NP_001244272.1:p.Pro274fs frameshift
... more HGVS
Protein change
P154fs, P274fs, P107fs
Other names
-
Canonical SPDI
NC_000002.12:218662607:CCCC:CCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs760559534
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Jan 5, 2018 RCV000671907.3
Pathogenic 1 criteria provided, single submitter Aug 26, 2021 RCV001383886.4
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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
(Jan 05, 2018)
criteria provided, single submitter
Method: clinical testing
GRACILE syndrome
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000796940.1
First in ClinVar: Aug 05, 2018
Last updated: Aug 05, 2018
Publications:
PubMed (1)
PubMed: 28105683
Pathogenic
(Aug 26, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001583206.2
First in ClinVar: May 10, 2021
Last updated: May 16, 2022
Pathogenic
(May 01, 2020)
no assertion criteria provided
Method: clinical testing
GRACILE syndrome
Affected status: unknown
Allele origin: germline
Natera, Inc.
Accession: SCV002076354.1
First in ClinVar: Apr 23, 2022
Last updated: Apr 23, 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
Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome. Shigematsu Y The Journal of dermatology 2017 PMID: 28105683

Text-mined citations for rs760559534...

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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