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NM_014946.4(SPAST):c.1322-2A>G AND Hereditary spastic paraplegia 4

Germline classification:
Pathogenic (1 submission)
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:
RCV001261168.2

Allele description [Variation Report for NM_014946.4(SPAST):c.1322-2A>G]

NM_014946.4(SPAST):c.1322-2A>G

Gene:
SPAST:spastin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_014946.4(SPAST):c.1322-2A>G
HGVS:
  • NC_000002.12:g.32136875A>G
  • NG_008730.1:g.78265A>G
  • NM_001363823.2:c.1319-2A>G
  • NM_001363875.2:c.1223-2A>G
  • NM_001377959.1:c.1226-2A>G
  • NM_014946.4:c.1322-2A>GMANE SELECT
  • NM_199436.2:c.1226-2A>G
  • LRG_714:g.78265A>G
  • NC_000002.11:g.32361944A>G
Links:
dbSNP: rs1553318208
NCBI 1000 Genomes Browser:
rs1553318208
Molecular consequence:
  • NM_001363823.2:c.1319-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001363875.2:c.1223-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001377959.1:c.1226-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_014946.4:c.1322-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_199436.2:c.1226-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
Unknown function
Observations:
1

Condition(s)

Name:
Hereditary spastic paraplegia 4
Synonyms:
Spastic paraplegia 4, autosomal dominant; Familial spastic paraplegia autosomal dominant 2
Identifiers:
MONDO: MONDO:0008438; MedGen: C1866855; Orphanet: 100985; OMIM: 182601

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001424321Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia
criteria provided, single submitter

(Córdoba et al. (PLoS One. 2018))		Pathogenicunknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

Córdoba M, Rodriguez-Quiroga SA, Vega PA, Salinas V, Perez-Maturo J, Amartino H, Vásquez-Dusefante C, Medina N, González-Morón D, Kauffman MA.

PLoS One. 2018;13(2):e0191228. doi: 10.1371/journal.pone.0191228.

PubMed [citation]
PMID:
29389947
PMCID:
PMC5794057

Details of each submission

From Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia, SCV001424321.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024