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NM_152594.3(SPRED1):c.*4948_*4949AT[1]

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000315786.2
Variation ID:
315786
Description:
2bp microsatellite
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NM_152594.3(SPRED1):c.*4948_*4949AT[1]

Allele ID
331702
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
15q14
Genomic location
15: 38356612-38356613 (GRCh38) GRCh38 UCSC
15: 38648813-38648814 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.38356612_38356613AT[1]
NC_000015.9:g.38648813_38648814AT[1]
NG_008980.1:g.108762_108763AT[1]
NM_152594.3:c.*4948_*4949AT[1] MANE Select 3 prime UTR
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:38356611:ATAT:AT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10641711
dbSNP: rs886051122
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000273588.2
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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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Legius Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000390845.2
Submitted: (Oct 18, 2016)
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 rs886051122...

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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