NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Likely pathogenic (Last evaluated: Sep 19, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412241.1

Allele description [Variation Report for NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)]

NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)

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.10136T>G (p.Leu3379Ter)
HGVS:
  • NC_000013.11:g.23333740A>C
  • NG_012342.1:g.104963T>G
  • NM_001278055.2:c.9695T>G
  • NM_014363.6:c.10136T>GMANE SELECT
  • NP_001264984.1:p.Leu3232Ter
  • NP_055178.3:p.Leu3379Ter
  • NC_000013.10:g.23907879A>C
  • NM_014363.4:c.10136T>G
Protein change:
L3232*
Links:
dbSNP: rs1057517250
NCBI 1000 Genomes Browser:
rs1057517250
Molecular consequence:
  • NM_001278055.2:c.9695T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.10136T>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000486982Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 19, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486982.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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