NM_014946.3(SPAST):c.1174-1del AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 20, 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:: RCV000993059.11

Allele description [Variation Report for NM_014946.3(SPAST):c.1174-1del]

NM_014946.3(SPAST):c.1174-1del

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p22.3

Genomic location:

Preferred name:

NM_014946.3(SPAST):c.1174-1del

HGVS:

NC_000002.12:g.32128407del
NC_000002.12:g.32128408del
NG_008730.1:g.69798del
LRG_714t1:c.1174-1del
LRG_714:g.69798del
NC_000002.11:g.32353477del
NM_014946.3:c.1174-1del

Links:

dbSNP: rs1573142475

NCBI 1000 Genomes Browser:

rs1573142475

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001145768	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Sep 20, 2018)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 10699187, 12124993, 20562464, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001145768

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Sep 20, 2018)

germline

clinical testing

PubMed (4)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bönsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Dürr A, Hazan J.

Hum Mol Genet. 2000 Mar 1;9(4):637-44. Erratum in: Hum Mol Genet. 2005 Feb 1;14(3):461. Boentsch, D [corrected to Bönsch, D].

PubMed [citation]

PMID:: 10699187

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

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV001145768.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The variant disrupts a canonical splice site, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.

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

Last Updated: Nov 3, 2024

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