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NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Sep 1, 2007
Accession:
VCV000001812.1
Variation ID:
1812
Description:
single nucleotide variant
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NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter)

Allele ID
16851
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 38349482 (GRCh38) GRCh38 UCSC
15: 38641683 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.38349482C>T
NM_152594.3:c.643C>T MANE Select NP_689807.1:p.Gln215Ter nonsense
NC_000015.9:g.38641683C>T
NG_008980.1:g.101632C>T
Protein change
Q215*
Other names
-
Canonical SPDI
NC_000015.10:38349481:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA251953
OMIM: 609291.0004
dbSNP: rs121434314
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 1, 2007 RCV000001885.3
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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
414 436

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 01, 2007)
no assertion criteria provided
Method: literature only
LEGIUS SYNDROME
Allele origin: germline
OMIM
Accession: SCV000022041.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Brems H Nature genetics 2007 PMID: 17704776

Text-mined citations for rs121434314...

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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 Oct 08, 2021