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NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 11, 2020
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:
RCV002326720.2

Allele description

NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)

Genes:
LOC130056973:ATAC-STARR-seq lymphoblastoid active region 9341 [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.4307_4308del (p.Gln1436fs)
HGVS:
  • NC_000015.10:g.44596209_44596210del
  • NG_008885.1:g.72469_72470del
  • NM_001160227.2:c.4307_4308del
  • NM_025137.4:c.4307_4308delMANE SELECT
  • NP_001153699.1:p.Gln1436fs
  • NP_079413.3:p.Gln1436fs
  • NC_000015.9:g.44888407_44888408del
  • NM_025137.3:c.4307_4308delAA
  • NM_025137.4:c.4307_4308delAAMANE SELECT
  • p.Gln1436Argfs*7
Protein change:
Q1436fs
Links:
dbSNP: rs312262759
NCBI 1000 Genomes Browser:
rs312262759
Molecular consequence:
  • NM_001160227.2:c.4307_4308del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_025137.4:c.4307_4308del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002627557Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)
Pathogenic
(Feb 11, 2020)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, et al.

Brain. 2008 Mar;131(Pt 3):772-84. Epub 2007 Dec 13.

PubMed [citation]
PMID:
18079167

Diffusion tensor imaging of two unrelated Chinese men with hereditary spastic paraplegia associated with thin corpus callosum.

Chen Q, Lui S, Wang JG, Ou-Yang L, Zhou D, Burgunder JM, Gong QY, Shang HF.

Neurosci Lett. 2008 Aug 15;441(1):21-4. doi: 10.1016/j.neulet.2008.05.114. Epub 2008 Jun 7.

PubMed [citation]
PMID:
18586399
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV002627557.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (6)

Description

The c.4307_4308delAA pathogenic mutation, located in coding exon 25 of the SPG11 gene, results from a deletion of two nucleotides at nucleotide positions 4307 to 4308, causing a translational frameshift with a predicted alternate stop codon (p.Q1436Rfs*7). This alteration has been detected in the homozygous state or in conjunction with a second disease-causing allele in multiple individuals with symptoms of hereditary spastic paraplegia (HSP) (Stevanin G et al. Brain, 2008 Mar;131:772-84; Lynch DS et al. Eur. J. Hum. Genet., 2016 06;24:857-63; Pensato V et al. Brain, 2014 Jul;137:1907-20; Denora PS et al. Hum. Mutat., 2009 Mar;30:E500-19; Chen Q et al. Neurosci. Lett., 2008 Aug;441:21-4). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024