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NM_014946.4(SPAST):c.1115del (p.Arg372fs) AND Hereditary spastic paraplegia 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 24, 2023
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:
RCV003887845.1

Allele description [Variation Report for NM_014946.4(SPAST):c.1115del (p.Arg372fs)]

NM_014946.4(SPAST):c.1115del (p.Arg372fs)

Gene:
SPAST:spastin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_014946.4(SPAST):c.1115del (p.Arg372fs)
HGVS:
  • NC_000002.12:g.32126964del
  • NG_008730.1:g.68354del
  • NM_001363823.2:c.1112del
  • NM_001363875.2:c.1016del
  • NM_001377959.1:c.1019del
  • NM_014946.4:c.1115delMANE SELECT
  • NM_199436.2:c.1019del
  • NP_001350752.1:p.Arg371fs
  • NP_001350804.1:p.Arg339fs
  • NP_001364888.1:p.Arg340fs
  • NP_055761.2:p.Arg372Lysfs
  • NP_055761.2:p.Arg372fs
  • NP_955468.1:p.Arg340fs
  • LRG_714t1:c.1115del
  • LRG_714:g.68354del
  • LRG_714p1:p.Arg372Lysfs
  • NC_000002.11:g.32352033del
  • NM_014946.3:c.1115delG
Protein change:
R339fs
Molecular consequence:
  • NM_001363823.2:c.1112del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363875.2:c.1016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377959.1:c.1019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014946.4:c.1115del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199436.2:c.1019del - 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
SCV004704540Human Genetics Bochum, Ruhr University Bochum
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 24, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

Sauter S, Miterski B, Klimpe S, Bönsch D, Schöls L, Visbeck A, Papke T, Hopf HC, Engel W, Deufel T, Epplen JT, Neesen J.

Hum Mutat. 2002 Aug;20(2):127-32.

PubMed [citation]
PMID:
12124993

Genetic etiology of progressive pediatric neurological disorders.

Aaltio J, Etula A, Ojanen S, Brilhante V, Lönnqvist T, Isohanni P, Suomalainen A.

Pediatr Res. 2024 Jan;95(1):102-111. doi: 10.1038/s41390-023-02767-z. Epub 2023 Aug 10.

PubMed [citation]
PMID:
37563452
PMCID:
PMC10798881
See all PubMed Citations (3)

Details of each submission

From Human Genetics Bochum, Ruhr University Bochum, SCV004704540.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

ACMG criteria used to clasify this variant: PVS1, PM1, PM2_SUP

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

Last Updated: Mar 10, 2024