NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Likely pathogenic (Last evaluated: Aug 7, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001283763.1

Allele description [Variation Report for NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)]

NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)
HGVS:
  • NC_000013.11:g.23334314_23334317del
  • NG_012342.1:g.104388_104391del
  • NM_001278055.2:c.9120_9123del
  • NM_014363.6:c.9561_9564delMANE SELECT
  • NP_001264984.1:p.Leu3040_Phe3041insTer
  • NP_055178.3:p.Leu3187_Phe3188insTer
  • NC_000013.10:g.23908453_23908456del
  • NM_014363.4:c.9561_9564del
  • NM_014363.5:c.9561_9564delGTTT
Links:
dbSNP: rs1060503431
NCBI 1000 Genomes Browser:
rs1060503431
Molecular consequence:
  • NM_001278055.2:c.9120_9123del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.9561_9564del - 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
SCV001469132Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical Cityno assertion criteria providedLikely pathogenic
(Aug 7, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City, SCV001469132.1

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

Last Updated: Oct 7, 2021

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