NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Likely pathogenic (Last evaluated: Apr 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000218042.2

Allele description [Variation Report for NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)]

NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)
HGVS:
  • NC_000013.11:g.23335335_23335336del
  • NG_012342.1:g.103369_103370del
  • NM_001278055.2:c.8101_8102del
  • NM_014363.6:c.8542_8543delMANE SELECT
  • NP_001264984.1:p.Phe2701fs
  • NP_055178.3:p.Phe2848fs
  • NC_000013.10:g.23909472_23909473delAA
  • NC_000013.10:g.23909474_23909475del
  • NM_014363.4:c.8542_8543delTT
  • p.Phe2848ProfsX14
Protein change:
F2701fs
Links:
dbSNP: rs876657721
NCBI 1000 Genomes Browser:
rs876657721
Molecular consequence:
  • NM_001278055.2:c.8101_8102del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.8542_8543del - 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
SCV000799221Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 11, 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, SCV000799221.1

#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 7, 2021

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