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.774T>G (p.Tyr258Ter)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 13, 2019)
Last evaluated:
Sep 11, 2018
Accession:
VCV000620355.1
Variation ID:
620355
Description:
single nucleotide variant
Help

NM_152594.3(SPRED1):c.774T>G (p.Tyr258Ter)

Allele ID
611793
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 38351103 (GRCh38) GRCh38 UCSC
15: 38643304 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.9:g.38643304T>G
NC_000015.10:g.38351103T>G
NM_152594.3:c.774T>G MANE Select NP_689807.1:p.Tyr258Ter nonsense
NG_008980.1:g.103253T>G
Protein change
Y258*
Other names
-
Canonical SPDI
NC_000015.10:38351102:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1566876690
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 11, 2018 RCV000760726.1
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
Likely pathogenic
(Sep 11, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000890618.1
Submitted: (Mar 13, 2019)
Evidence details
Comment:
The Y258X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant … (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 rs1566876690...

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