NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001391622.1

Allele description [Variation Report for NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)]

NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)

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.6126C>A (p.Cys2042Ter)
HGVS:
  • NC_000013.11:g.23337750G>T
  • NG_012342.1:g.100953C>A
  • NM_001278055.2:c.5685C>A
  • NM_014363.6:c.6126C>AMANE SELECT
  • NP_001264984.1:p.Cys1895Ter
  • NP_055178.3:p.Cys2042Ter
  • NC_000013.10:g.23911889G>T
Protein change:
C1895*
Molecular consequence:
  • NM_001278055.2:c.5685C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.6126C>A - nonsense - [Sequence Ontology: SO:0001587]
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
SCV001451183Paris Brain Institute,Inserm - ICMcriteria provided, single submitter
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

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 Paris Brain Institute,Inserm - ICM, SCV001451183.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not 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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