U.S. flag

An official website of the United States government

NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 21, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002265027.2

Allele description [Variation Report for NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly)]

NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly)

Gene:
SPAST:spastin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly)
HGVS:
  • NC_000002.12:g.32137187A>G
  • NG_008730.1:g.78577A>G
  • NM_001363823.2:c.1489A>G
  • NM_001363875.2:c.1393A>G
  • NM_001377959.1:c.1396A>G
  • NM_014946.4:c.1492A>GMANE SELECT
  • NM_199436.2:c.1396A>G
  • NP_001350752.1:p.Arg497Gly
  • NP_001350804.1:p.Arg465Gly
  • NP_001364888.1:p.Arg466Gly
  • NP_055761.2:p.Arg498Gly
  • NP_955468.1:p.Arg466Gly
  • LRG_714t1:c.1492A>G
  • LRG_714:g.78577A>G
  • NC_000002.11:g.32362256A>G
  • NM_014946.3:c.1492A>G
Protein change:
R465G
Links:
dbSNP: rs1553318350
NCBI 1000 Genomes Browser:
rs1553318350
Molecular consequence:
  • NM_001363823.2:c.1489A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363875.2:c.1393A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377959.1:c.1396A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014946.4:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199436.2:c.1396A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002546586GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jun 21, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002546586.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in ClinVar as likely pathogenic by a laboratory that has observed this variant in individual(s) with hereditary spastic paraplegia (ClinVar Variant ID#1066782; SCV001575324.1; ClinVar); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 21139634, 26094131, 20932283, 20718791)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024