NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Uncertain significance (Last evaluated: Apr 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673945.1

Allele description [Variation Report for NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe)]

NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe)

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.12020C>T (p.Ser4007Phe)
HGVS:
  • NC_000013.11:g.23331856G>A
  • NG_012342.1:g.106847C>T
  • NM_001278055.2:c.11579C>T
  • NM_014363.6:c.12020C>TMANE SELECT
  • NP_001264984.1:p.Ser3860Phe
  • NP_055178.3:p.Ser4007Phe
  • NC_000013.10:g.23905995G>A
  • NM_014363.4:c.12020C>T
Protein change:
S3860F
Links:
dbSNP: rs1314135259
NCBI 1000 Genomes Browser:
rs1314135259
Molecular consequence:
  • NM_001278055.2:c.11579C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.12020C>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
SCV000799206Counsylcriteria provided, single submitter
Uncertain significance
(Apr 11, 2018)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Oguz KK, Haliloglu G, Temucin C, Gocmen R, Has AC, Doerschner K, Dolgun A, Alikasifoglu M.

AJNR Am J Neuroradiol. 2013 Oct;34(10):1952-7. doi: 10.3174/ajnr.A3488. Epub 2013 Apr 18.

PubMed [citation]
PMID:
23598833
PMCID:
PMC7965424

A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Miyatake S, Miyake N, Doi H, Saitsu H, Ogata K, Kawai M, Matsumoto N.

Intern Med. 2012;51(16):2221-6. Epub 2012 Aug 15.

PubMed [citation]
PMID:
22892508

Details of each submission

From Counsyl, SCV000799206.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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