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NM_014946.4(SPAST):c.286del (p.Ala96fs) AND Hereditary spastic paraplegia 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 2018
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:
RCV000824386.6

Allele description [Variation Report for NM_014946.4(SPAST):c.286del (p.Ala96fs)]

NM_014946.4(SPAST):c.286del (p.Ala96fs)

Gene:
SPAST:spastin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_014946.4(SPAST):c.286del (p.Ala96fs)
HGVS:
  • NC_000002.12:g.32064117del
  • NG_008730.1:g.5507del
  • NM_001363823.2:c.286del
  • NM_001363875.2:c.286del
  • NM_001377959.1:c.286del
  • NM_014946.4:c.286delMANE SELECT
  • NM_199436.2:c.286del
  • NP_001350752.1:p.Ala96fs
  • NP_001350804.1:p.Ala96fs
  • NP_001364888.1:p.Ala96fs
  • NP_055761.2:p.Ala96fs
  • NP_955468.1:p.Ala96fs
  • LRG_714:g.5507del
  • NC_000002.11:g.32289186del
  • NM_014946.3:c.286delG
Protein change:
A96fs
Links:
dbSNP: rs1573028017
NCBI 1000 Genomes Browser:
rs1573028017
Molecular consequence:
  • NM_001363823.2:c.286del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363875.2:c.286del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377959.1:c.286del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014946.4:c.286del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199436.2:c.286del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000965282Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 25, 2018) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

Lindsey JC, Lusher ME, McDermott CJ, White KD, Reid E, Rubinsztein DC, Bashir R, Hazan J, Shaw PJ, Bushby KM.

J Med Genet. 2000 Oct;37(10):759-65.

PubMed [citation]
PMID:
11015453
PMCID:
PMC1757167

Clinical features of hereditary spastic paraplegia due to spastin mutation.

McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, Sharrack B, Hadjivassiliou M, Chinnery PF, Dalton A, Shaw PJ; UK and Irish HSP Consortium..

Neurology. 2006 Jul 11;67(1):45-51. Erratum in: Neurology. 2009 Apr 28;72(17):1534.

PubMed [citation]
PMID:
16832076
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000965282.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant has been observed in individuals and families affected with hereditary spastic paraplegia (PMID: 11015453, 16832076). This variant is also known as 411delG in the literature. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala96Argfs*65) in the SPAST gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Feb 20, 2024