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NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 20, 2017)
Last evaluated:
Nov 1, 2016
Accession:
VCV000547791.1
Variation ID:
547791
Description:
single nucleotide variant
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NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter)

Allele ID
538027
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 38299443 (GRCh38) GRCh38 UCSC
15: 38591644 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.38299443G>T
NC_000015.9:g.38591644G>T
NG_008980.1:g.51593G>T
NM_152594.3:c.103G>T MANE Select NP_689807.1:p.Gly35Ter nonsense
Protein change
G35*
Other names
-
Canonical SPDI
NC_000015.10:38299442:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555389690
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 1, 2016 RCV000660293.1
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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
414 436

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
Legius syndrome
Allele origin: germline
Center for Human Genetics, Inc,Center for Human Genetics, Inc
Accession: SCV000782322.1
Submitted: (Dec 20, 2017)
Evidence details

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 rs1555389690...

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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 Nov 27, 2021