NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Uncertain significance (Last evaluated: Jan 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000672014.1

Allele description [Variation Report for NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)]

NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)
HGVS:
  • NC_000013.11:g.23338731_23338733del
  • NG_012342.1:g.99976_99978del
  • NM_001278055.2:c.4708_4710del
  • NM_014363.6:c.5149_5151delMANE SELECT
  • NP_001264984.1:p.Lys1570del
  • NP_055178.3:p.Lys1717del
  • NC_000013.10:g.23912870_23912872del
  • NM_014363.4:c.5149_5151delAAA
Protein change:
K1570del
Links:
dbSNP: rs754439135
NCBI 1000 Genomes Browser:
rs754439135
Molecular consequence:
  • NM_001278055.2:c.4708_4710del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_014363.6:c.5149_5151del - 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
SCV000797067Counsylcriteria provided, single submitter
Uncertain significance
(Jan 12, 2018)
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, SCV000797067.1

#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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