NM_014363.6(SACS):c.10755_10757del (p.Phe3585del) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Uncertain significance (Last evaluated: Dec 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000671400.1

Allele description [Variation Report for NM_014363.6(SACS):c.10755_10757del (p.Phe3585del)]

NM_014363.6(SACS):c.10755_10757del (p.Phe3585del)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del)
HGVS:
  • NC_000013.11:g.23333121_23333123del
  • NG_012342.1:g.105582_105584del
  • NM_001278055.2:c.10314_10316del
  • NM_014363.6:c.10755_10757delMANE SELECT
  • NP_001264984.1:p.Phe3438del
  • NP_055178.3:p.Phe3585del
  • NC_000013.10:g.23907260_23907262del
  • NM_014363.4:c.10755_10757delCTT
Protein change:
F3438del
Links:
dbSNP: rs771277098
NCBI 1000 Genomes Browser:
rs771277098
Molecular consequence:
  • NM_001278055.2:c.10314_10316del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_014363.6:c.10755_10757del - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000796372Counsylcriteria provided, single submitter
Uncertain significance
(Dec 12, 2017)
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, SCV000796372.1

#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

Support Center