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NM_152594.3(SPRED1):c.196A>C (p.Arg66=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Jul 31, 2017
Accession:
VCV000451047.2
Variation ID:
451047
Description:
single nucleotide variant
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NM_152594.3(SPRED1):c.196A>C (p.Arg66=)

Allele ID
445307
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 38299536 (GRCh38) GRCh38 UCSC
15: 38591737 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.38299536A>C
NC_000015.9:g.38591737A>C
NM_152594.3:c.196A>C MANE Select NP_689807.1:p.Arg66= synonymous
NG_008980.1:g.51686A>C
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:38299535:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA7470008
dbSNP: rs751923342
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 Jul 31, 2017 RCV000520815.1
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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
(Jul 31, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000619692.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.196 A>C (R66=) variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. … (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 rs751923342...

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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