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NM_014946.4(SPAST):c.683-7033_1004+30del AND Hereditary spastic paraplegia 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 7, 2014
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:
RCV000203476.1

Allele description [Variation Report for NM_014946.4(SPAST):c.683-7033_1004+30del]

NM_014946.4(SPAST):c.683-7033_1004+30del

Gene:
SPAST:spastin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_014946.4(SPAST):c.683-7033_1004+30del
HGVS:
  • NC_000002.12:g.32107605_32115865del
  • NG_008730.1:g.48995_57255del
  • NM_001363823.2:c.680-7033_1001+30del
  • NM_001363875.2:c.584-7033_905+30del
  • NM_001377959.1:c.587-7033_908+30del
  • NM_014946.4:c.683-7033_1004+30delMANE SELECT
  • NM_199436.2:c.587-7033_908+30del
  • LRG_714:g.48995_57255del
  • NC_000002.11:g.32332674_32340934del
Molecular consequence:
  • NM_001363823.2:c.680-7033_1001+30del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001363875.2:c.584-7033_905+30del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001377959.1:c.587-7033_908+30del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_014946.4:c.683-7033_1004+30del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_199436.2:c.587-7033_908+30del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001363823.2:c.680-7033_1001+30del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363875.2:c.584-7033_905+30del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001377959.1:c.587-7033_908+30del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_014946.4:c.683-7033_1004+30del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_199436.2:c.587-7033_908+30del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000258352Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(Boone et al. (AJHG 2014))		Pathogenic
(Aug 7, 2014) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedresearch

Citations

PubMed

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, et al.

Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24.

PubMed [citation]
PMID:
25065914
PMCID:
PMC4129405

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000258352.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Apr 23, 2022