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NM_001079866.2(BCS1L):c.625_626del (p.Ile209fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Oct 11, 2015
Most recent Submission:
Oct 11, 2015
Last evaluated:
Sep 3, 2014
Accession:
VCV000214164.1
Variation ID:
214164
Description:
2bp deletion
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NM_001079866.2(BCS1L):c.625_626del (p.Ile209fs)

Allele ID
210778
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
2q35
Genomic location
2: 218661923-218661924 (GRCh38) GRCh38 UCSC
2: 219526646-219526647 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.625_626del MANE Select NP_001073335.1:p.Ile209fs frameshift
NM_001257342.2:c.625_626del NP_001244271.1:p.Ile209fs frameshift
NM_001257343.2:c.625_626del NP_001244272.1:p.Ile209fs frameshift
... more HGVS
Protein change
I209fs, I89fs, I42fs
Other names
p.209_209del
Canonical SPDI
NC_000002.12:218661922:AT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA323582
dbSNP: rs863223915
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 Sep 3, 2014 RCV000199046.1
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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
(Sep 03, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000251197.3
First in ClinVar: Oct 11, 2015
Last updated: Oct 11, 2015
Comment:
c.625_626delAT: p.Ile209ArgfsX2 in exon 5 in the BCS1L gene (NM_004328.4). The normal sequence with the bases that are deleted in braces is: ATTC{AT}CGAT. The c.625_626delAT … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs863223915...

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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