NM_014363.5(SACS):c.5744_5745delAT (p.His1915Argfs) AND Spastic ataxia Charlevoix-Saguenay type

Clinical significance:Likely pathogenic (Last evaluated: Aug 9, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411869.1

Allele description

NM_014363.5(SACS):c.5744_5745delAT (p.His1915Argfs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.5(SACS):c.5744_5745delAT (p.His1915Argfs)
HGVS:
  • NC_000013.11:g.23338131_23338132delAT
  • NG_012342.1:g.100571_100572delAT
  • NM_014363.5:c.5744_5745delAT
  • NP_055178.3:p.His1915Argfs
  • NC_000013.10:g.23912270_23912271delAT
  • NM_014363.4:c.5744_5745delAT
Links:
dbSNP: rs1057517138
NCBI 1000 Genomes Browser:
rs1057517138
Molecular consequence:
  • NM_014363.5:c.5744_5745delAT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Spastic ataxia Charlevoix-Saguenay type (SACS)
Synonyms:
SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE
Identifiers:
MedGen: C1849140; Orphanet: 98; OMIM: 270550
Age of onset:
Childhood

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486804Counsylcriteria provided, single submitter
Likely pathogenic
(Aug 9, 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, SCV000486804.1

#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: Jul 15, 2017