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NM_025137.4(SPG11):c.2790del (p.Cys931fs) AND Hereditary spastic paraplegia 11

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000490287.1

Allele description [Variation Report for NM_025137.4(SPG11):c.2790del (p.Cys931fs)]

NM_025137.4(SPG11):c.2790del (p.Cys931fs)

Gene:
SPG11:SPG11 vesicle trafficking associated, spatacsin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_025137.4(SPG11):c.2790del (p.Cys931fs)
HGVS:
  • NC_000015.10:g.44620235del
  • NG_008885.1:g.48445del
  • NM_001160227.2:c.2790del
  • NM_025137.4:c.2790delMANE SELECT
  • NP_001153699.1:p.Cys931fs
  • NP_079413.3:p.Cys931fs
  • NC_000015.9:g.44912433del
  • NM_001160227.1:c.2790delC
Protein change:
C931fs
Links:
dbSNP: rs1085307097
NCBI 1000 Genomes Browser:
rs1085307097
Molecular consequence:
  • NM_001160227.2:c.2790del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_025137.4:c.2790del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary spastic paraplegia 11
Synonyms:
SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM; Spastic Paraplegia 11; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011445; MedGen: C1858479; Orphanet: 2822; OMIM: 604360

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267515Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 18, 2016)
germlinereference population

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, et al.

Nat Genet. 2007 Mar;39(3):366-72. Epub 2007 Feb 18.

PubMed [citation]
PMID:
17322883

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267515.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 16, 2025