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NM_152594.3(SPRED1):c.376+279_376+291del

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 14, 2018)
Last evaluated:
Jun 14, 2018
Accession:
VCV000561883.1
Variation ID:
561883
Description:
13bp deletion
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NM_152594.3(SPRED1):c.376+279_376+291del

Allele ID
552840
Variant type
Deletion
Variant length
13 bp
Cytogenetic location
15q14
Genomic location
15: 38322683-38322695 (GRCh38) GRCh38 UCSC
15: 38614884-38614896 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.38322688_38322700del
NC_000015.9:g.38614889_38614901del
NM_152594.3:c.376+279_376+291del MANE Select
NG_008980.1:g.74838_74850del
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:38322682:AAGAGCTTGAAGGAAGAG:AAGAG
Functional consequence
-
Global minor allele frequency (GMAF)
0.37780 (AAGAG)

Allele frequency
-
Links
dbSNP: rs3841233
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 14, 2018 RCV000681338.1
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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
403 425

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 14, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000808800.1
Submitted: (Sep 14, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (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 rs3841233...

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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 Feb 27, 2021