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NM_152594.3(SPRED1):c.1151del (p.Glu384fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 8, 2018
Accession:
VCV000642469.1
Variation ID:
642469
Description:
1bp deletion
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NM_152594.3(SPRED1):c.1151del (p.Glu384fs)

Allele ID
643125
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 38351480 (GRCh38) GRCh38 UCSC
15: 38643681 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.38351480del
NC_000015.9:g.38643681del
NG_008980.1:g.103630del
NM_152594.3:c.1151del MANE Select NP_689807.1:p.Glu384fs frameshift
Protein change
E384fs
Other names
-
Canonical SPDI
NC_000015.10:38351479:A:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1595763928
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 Nov 8, 2018 RCV000795942.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SPRED1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
412 434

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 08, 2018)
criteria provided, single submitter
Method: clinical testing
Legius syndrome
Allele origin: germline
Invitae
Accession: SCV000935423.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change results in a premature translational stop signal in the SPRED1 gene (p.Glu384Glyfs*22). While this is not anticipated to result in nonsense mediated … (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
Distinct requirements for the Sprouty domain for functional activity of Spred proteins. King JA The Biochemical journal 2005 PMID: 15683364

Text-mined citations for rs1595763928...

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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 Oct 08, 2021