NM_014363.6(SACS):c.848GTA[1] (p.Ser284del) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Uncertain significance (Last evaluated: Aug 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000668760.1

Allele description [Variation Report for NM_014363.6(SACS):c.848GTA[1] (p.Ser284del)]

NM_014363.6(SACS):c.848GTA[1] (p.Ser284del)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del)
HGVS:
  • NC_000013.11:g.23355761CTA[1]
  • NG_012342.1:g.82939GTA[1]
  • NM_001278055.2:c.407GTA[1]
  • NM_014363.6:c.848GTA[1]MANE SELECT
  • NP_001264984.1:p.Ser137del
  • NP_055178.3:p.Ser284del
  • NC_000013.10:g.23929900CTA[1]
  • NM_014363.4:c.851_853delGTA
Protein change:
S137del
Links:
dbSNP: rs1555254436
NCBI 1000 Genomes Browser:
rs1555254436
Molecular consequence:
  • NM_001278055.2:c.407GTA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_014363.6:c.848GTA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000793411Counsylcriteria provided, single submitter
Uncertain significance
(Aug 15, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000793411.1

#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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