NM_014363.6(SACS):c.3356del (p.Pro1119fs) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Likely pathogenic (Last evaluated: Jul 11, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412109.1

Allele description [Variation Report for NM_014363.6(SACS):c.3356del (p.Pro1119fs)]

NM_014363.6(SACS):c.3356del (p.Pro1119fs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
HGVS:
  • NC_000013.11:g.23340521del
  • NG_012342.1:g.98183del
  • NM_001278055.2:c.2915del
  • NM_014363.6:c.3356delMANE SELECT
  • NP_001264984.1:p.Pro972fs
  • NP_055178.3:p.Pro1119fs
  • NC_000013.10:g.23914659del
  • NC_000013.10:g.23914660del
  • NM_014363.4:c.3356delC
Protein change:
P1119fs
Links:
dbSNP: rs1057517039
NCBI 1000 Genomes Browser:
rs1057517039
Molecular consequence:
  • NM_001278055.2:c.2915del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.3356del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000486644Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 11, 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, SCV000486644.1

#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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