Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_152594.3(SPRED1):c.582+52A>G

Help
Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 14, 2018)
Last evaluated:
Jun 16, 2018
Accession:
VCV000561407.1
Variation ID:
561407
Description:
single nucleotide variant
Help

NM_152594.3(SPRED1):c.582+52A>G

Allele ID
552847
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 38339947 (GRCh38) GRCh38 UCSC
15: 38632148 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.38339947A>G
NC_000015.9:g.38632148A>G
NM_152594.3:c.582+52A>G MANE Select
NG_008980.1:g.92097A>G
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:38339946:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.09046 (A)

Allele frequency
1000 Genomes Project 0.90955
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.90691
Exome Aggregation Consortium (ExAC) 0.97471
The Genome Aggregation Database (gnomAD), exomes 0.97880
Trans-Omics for Precision Medicine (TOPMed) 0.90784
The Genome Aggregation Database (gnomAD) 0.91801
Links
dbSNP: rs7181472
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 16, 2018 RCV000680699.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000808143.1
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

Help
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

Help
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 rs7181472...

Help
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