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NM_152594.3(SPRED1):c.477A>T (p.Gln159His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 28, 2019
Accession:
VCV000967570.2
Variation ID:
967570
Description:
single nucleotide variant
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NM_152594.3(SPRED1):c.477A>T (p.Gln159His)

Allele ID
957399
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q14
Genomic location
15: 38339790 (GRCh38) GRCh38 UCSC
15: 38631991 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.38339790A>T
NC_000015.9:g.38631991A>T
NG_008980.1:g.91940A>T
NM_152594.3:c.477A>T MANE Select NP_689807.1:p.Gln159His missense
Protein change
Q159H
Other names
-
Canonical SPDI
NC_000015.10:38339789:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Sep 28, 2019 RCV001242526.1
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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
412 434

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 28, 2019)
criteria provided, single submitter
Method: clinical testing
Legius syndrome
Allele origin: germline
Invitae
Accession: SCV001415621.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamine with histidine at codon 159 of the SPRED1 protein (p.Gln159His). The glutamine residue is moderately 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.

Record last updated Oct 08, 2021