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NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 7, 2017)
Last evaluated:
Jun 19, 2016
Accession:
VCV000488454.1
Variation ID:
488454
Description:
single nucleotide variant
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NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter)

Allele ID
481313
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q24.31
Genomic location
10: 100238126 (GRCh38) GRCh38 UCSC
10: 101997883 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.101997883C>A
NC_000010.11:g.100238126C>A
NM_018294.6:c.1150G>T MANE Select NP_060764.3:p.Glu384Ter nonsense
... more HGVS
Protein change
E384*, E247*, E139*
Other names
-
Canonical SPDI
NC_000010.11:100238125:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA378161744
dbSNP: rs1554902760
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 no assertion criteria provided Jun 19, 2016 RCV000578457.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CWF19L1 - - GRCh38
GRCh37
42 58

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 19, 2016)
no assertion criteria provided
Method: clinical testing
Spinocerebellar ataxia, autosomal recessive 17
Allele origin: germline
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals
Accession: SCV000680119.1
Submitted: (Sep 07, 2017)
Evidence details

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 rs1554902760...

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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 17, 2020