NM_014363.6(SACS):c.5492del (p.Lys1831fs) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001255857.1

Allele description [Variation Report for NM_014363.6(SACS):c.5492del (p.Lys1831fs)]

NM_014363.6(SACS):c.5492del (p.Lys1831fs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.5492del (p.Lys1831fs)
HGVS:
  • NC_000013.11:g.23338385del
  • NG_012342.1:g.100319del
  • NM_001278055.2:c.5051del
  • NM_014363.6:c.5492delMANE SELECT
  • NP_001264984.1:p.Lys1684fs
  • NP_055178.3:p.Lys1831fs
  • NC_000013.10:g.23912524del
  • NM_001278055.2:c.5051delA
Protein change:
K1684fs
Molecular consequence:
  • NM_001278055.2:c.5051del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.5492del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
Unknown function
Observations:
1

Condition(s)

Name:
Charlevoix-Saguenay spastic ataxia (SACS)
Synonyms:
Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Spastic ataxia of Charlevoix-Saguenay; SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0010041; MedGen: C1849140; Orphanet: 98; OMIM: 270550

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001424044Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejiacriteria provided, single submitter
Likely pathogenicunknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.

Perez Maturo J, Zavala L, Vega P, González-Morón D, Medina N, Salinas V, Rosales J, Córdoba M, Arakaki T, Garretto N, Rodríguez-Quiroga S, Kauffman MA.

J Hum Genet. 2020 Oct;65(10):895-902. doi: 10.1038/s10038-020-0785-z. Epub 2020 Jun 3.

PubMed [citation]
PMID:
32488064

Details of each submission

From Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia, SCV001424044.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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