NM_014363.5:c.[1640C>T;1634G>T] AND Hereditary spastic paraplegia

Clinical significance:Likely pathogenic (Last evaluated: Mar 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000515975.1

Alleles description [Variation Report for NM_014363.5:c.[1640C>T;1634G>T]]

NM_014363.6(SACS):c.1640C>T (p.Pro547Leu)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu)
HGVS:
  • NC_000013.11:g.23354972G>A
  • NG_012342.1:g.83731C>T
  • NM_001278055.2:c.1199C>T
  • NM_014363.6:c.1640C>TMANE SELECT
  • NP_001264984.1:p.Pro400Leu
  • NP_055178.3:p.Pro547Leu
  • NC_000013.10:g.23929111G>A
  • NM_014363.5:c.1640C>T
Protein change:
P400L
Links:
dbSNP: rs140507581
NCBI 1000 Genomes Browser:
rs140507581
Molecular consequence:
  • NM_001278055.2:c.1199C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.1640C>T - missense variant - [Sequence Ontology: SO:0001583]

NM_014363.6(SACS):c.1634G>T (p.Trp545Leu)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.1634G>T (p.Trp545Leu)
HGVS:
  • NC_000013.11:g.23354978C>A
  • NG_012342.1:g.83725G>T
  • NM_001278055.2:c.1193G>T
  • NM_014363.6:c.1634G>TMANE SELECT
  • NP_001264984.1:p.Trp398Leu
  • NP_055178.3:p.Trp545Leu
  • NC_000013.10:g.23929117C>A
  • NM_014363.5:c.1634G>T
Protein change:
W398L
Links:
dbSNP: rs1555254281
NCBI 1000 Genomes Browser:
rs1555254281
Molecular consequence:
  • NM_001278055.2:c.1193G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.1634G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary spastic paraplegia
Synonyms:
Familial spastic paraparesis
Identifiers:
MONDO: MONDO:0019064; MedGen: C0037773; OMIM: PS303350

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000574461Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúdecriteria provided, single submitter
Likely pathogenic
(Mar 7, 2017)
inheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

Morais S, Raymond L, Mairey M, Coutinho P, Brandão E, Ribeiro P, Loureiro JL, Sequeiros J, Brice A, Alonso I, Stevanin G.

Eur J Hum Genet. 2017 Nov;25(11):1217-1228. doi: 10.1038/ejhg.2017.124. Epub 2017 Aug 23.

PubMed [citation]
PMID:
28832565
PMCID:
PMC5643959

Details of each submission

From Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde, SCV000574461.1

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

Last Updated: Oct 7, 2021

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