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NM_152594.3(SPRED1):c.-22A>C

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 21, 2016)
Last evaluated:
Sep 12, 2016
Accession:
VCV000373016.1
Variation ID:
373016
Description:
single nucleotide variant
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NM_152594.3(SPRED1):c.-22A>C

Allele ID
360177
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 38253164 (GRCh38) GRCh38 UCSC
15: 38545365 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.38253164A>C
NC_000015.9:g.38545365A>C
NM_152594.3:c.-22A>C MANE Select 5 prime UTR
NG_008980.1:g.5314A>C
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:38253163:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16042944
dbSNP: rs1057518143
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 12, 2016 RCV000413905.1
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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
402 424

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 12, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000491570.1
Submitted: (Dec 21, 2016)
Evidence details
Comment:
The c.-22 A>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It … (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 rs1057518143...

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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