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.-294_-293CT[2]

Help
Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 23, 2019)
Last evaluated:
May 23, 2019
Accession:
VCV000631554.1
Variation ID:
631554
Description:
2bp microsatellite
Help

NM_152594.3(SPRED1):c.-294_-293CT[2]

Allele ID
619941
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
15q14
Genomic location
15: 38252892-38252893 (GRCh38) GRCh38 UCSC
15: 38545093-38545094 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.38252892_38252893CT[2]
NC_000015.9:g.38545093_38545094CT[2]
NM_152594.3:c.-294_-293CT[2] MANE Select 5 prime UTR
NG_008980.1:g.5042_5043CT[2]
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:38252891:CTCTCT:CTCT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1048605006
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 23, 2019 RCV000778167.1
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 benign
(May 23, 2019)
criteria provided, single submitter
Method: clinical testing
Rasopathy
(Autosomal dominant inheritance)
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000914246.1
Submitted: (May 23, 2019)
Evidence details
Comment:
Patient has a pathogenic variant in NF1

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 rs1048605006...

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 Jan 16, 2021