NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Uncertain significance (Last evaluated: Jun 21, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667624.1

Allele description [Variation Report for NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile)]

NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile)

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.5639C>T (p.Thr1880Ile)
HGVS:
  • NC_000013.11:g.23338237G>A
  • NG_012342.1:g.100466C>T
  • NM_001278055.2:c.5198C>T
  • NM_014363.6:c.5639C>TMANE SELECT
  • NP_001264984.1:p.Thr1733Ile
  • NP_055178.3:p.Thr1880Ile
  • NC_000013.10:g.23912376G>A
  • NM_014363.4:c.5639C>T
Protein change:
T1733I
Links:
dbSNP: rs1555252070
NCBI 1000 Genomes Browser:
rs1555252070
Molecular consequence:
  • NM_001278055.2:c.5198C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.5639C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000792103Counsylcriteria provided, single submitter
Uncertain significance
(Jun 21, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Romano A, Tessa A, Barca A, Fattori F, de Leva MF, Terracciano A, Storelli C, Santorelli FM, Verri T.

Hum Mutat. 2013 Mar;34(3):525-37. doi: 10.1002/humu.22269.

PubMed [citation]
PMID:
23280630
PMCID:
PMC3629688

Details of each submission

From Counsyl, SCV000792103.1

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

Last Updated: Oct 7, 2021

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