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

Recent activity

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D-mannose binding lectin protein with Apple-like carbohydrate-binding domain-con...
D-mannose binding lectin protein with Apple-like carbohydrate-binding domain-containing protein [Arabidopsis thaliana]
gi|15219201|ref|NP_178007.1|

Protein
microtubule-associated protein 10 [Homo sapiens]
microtubule-associated protein 10 [Homo sapiens]
gi|149192843|ref|NP_061963.2|

Protein
SELPLG selectin P ligand [Homo sapiens]
SELPLG selectin P ligand [Homo sapiens]
Gene ID:6404

Gene
844223[uid] AND (alive[prop]) (1)
Gene
COL18A1-AS1 COL18A1 antisense RNA 1 [Homo sapiens]
COL18A1-AS1 COL18A1 antisense RNA 1 [Homo sapiens]
Gene ID:378832

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004704540	Human Genetics Bochum, Ruhr University Bochum	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 24, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12124993, 37563452, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004704540

Human Genetics Bochum, Ruhr University Bochum

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 24, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 10, 2024

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