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NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003483611.1

Allele description [Variation Report for NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)]

NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)

Gene:
SPG11:SPG11 vesicle trafficking associated, spatacsin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
HGVS:
  • NC_000015.10:g.44584299A>G
  • NG_008885.1:g.84380T>C
  • NM_001160227.2:c.5381T>C
  • NM_025137.4:c.5381T>CMANE SELECT
  • NP_001153699.1:p.Leu1794Pro
  • NP_079413.3:p.Leu1794Pro
  • NC_000015.9:g.44876497A>G
  • NM_025137.3:c.5381T>C
Protein change:
L1794P
Links:
dbSNP: rs201689565
NCBI 1000 Genomes Browser:
rs201689565
Molecular consequence:
  • NM_001160227.2:c.5381T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025137.4:c.5381T>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
unknown functional consequence

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, autosomal recessive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011445; MedGen: C1858479; Orphanet: 2822; OMIM: 604360
Name:
Charcot-Marie-Tooth disease axonal type 2X
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X
Identifiers:
MONDO: MONDO:0014726; MedGen: C5569024; OMIM: 616668
Name:
Juvenile amyotrophic lateral sclerosis (JALS)
Identifiers:
MONDO: MONDO:0017593; MedGen: C3468114; Orphanet: 300605

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228695GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228695.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 12-19-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024