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NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 6, 2020)
Last evaluated:
Mar 18, 2019
Accession:
VCV000571323.2
Variation ID:
571323
Description:
single nucleotide variant
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NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)

Allele ID
569374
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 44584209 (GRCh38) GRCh38 UCSC
15: 44876407 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.44584209C>T
NC_000015.9:g.44876407C>T
NM_025137.4:c.5471G>A MANE Select NP_079413.3:p.Arg1824Gln missense
... more HGVS
Protein change
R1824Q
Other names
-
Canonical SPDI
NC_000015.10:44584208:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00018
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs752401008
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 Mar 18, 2019 RCV000692442.2
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765211.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SPG11 - - GRCh38
GRCh37
1438 1458

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Amyotrophic lateral sclerosis type 5
Spastic paraplegia 11, autosomal recessive
Charcot-Marie-Tooth disease, axonal type 2X
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896447.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Mar 18, 2019)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia 11, autosomal recessive
Allele origin: germline
Invitae
Accession: SCV000820267.2
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with glutamine at codon 1824 of the SPG11 protein (p.Arg1824Gln). The arginine 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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs752401008...

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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 Jun 14, 2021