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NM_152594.3(SPRED1):c.842A>G (p.Gln281Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 22, 2019
Accession:
VCV000536691.3
Variation ID:
536691
Description:
single nucleotide variant
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NM_152594.3(SPRED1):c.842A>G (p.Gln281Arg)

Allele ID
528785
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 38351171 (GRCh38) GRCh38 UCSC
15: 38643372 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.38351171A>G
NC_000015.9:g.38643372A>G
NG_008980.1:g.103321A>G
NM_152594.3:c.842A>G MANE Select NP_689807.1:p.Gln281Arg missense
Protein change
Q281R
Other names
-
Canonical SPDI
NC_000015.10:38351170:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Links
ClinGen: CA391933371
dbSNP: rs1427402192
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 22, 2019 RCV000645299.3
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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
413 435

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 22, 2019)
criteria provided, single submitter
Method: clinical testing
Legius syndrome
Allele origin: germline
Invitae
Accession: SCV000767042.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamine with arginine at codon 281 of the SPRED1 protein (p.Gln281Arg). The glutamine residue is weakly conserved and there is a … (more)

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 rs1427402192...

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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