NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Likely pathogenic (Last evaluated: Mar 10, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409079.1

Allele description [Variation Report for NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)]

NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)
HGVS:
  • NC_000013.11:g.23355422_23355423del
  • NG_012342.1:g.83280_83281del
  • NM_001278055.2:c.748_749del
  • NM_014363.6:c.1189_1190delMANE SELECT
  • NP_001264984.1:p.Ser250fs
  • NP_055178.3:p.Ser397fs
  • NC_000013.10:g.23929561_23929562del
  • NM_014363.4:c.1189_1190delAG
  • NM_014363.5:c.1189_1190del
Protein change:
S250fs
Links:
dbSNP: rs1057516625
NCBI 1000 Genomes Browser:
rs1057516625
Molecular consequence:
  • NM_001278055.2:c.748_749del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.1189_1190del - 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
SCV000485969Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 10, 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, SCV000485969.1

#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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