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NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del) AND Charlevoix-Saguenay spastic ataxia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000674356.1

Allele description [Variation Report for NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del)]

NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del)
HGVS:
  • NC_000013.11:g.23337405ATC[1]
  • NG_012342.1:g.101293GAT[1]
  • NM_001278055.2:c.6025GAT[1]
  • NM_014363.6:c.6466GAT[1]MANE SELECT
  • NP_001264984.1:p.Asp2010del
  • NP_055178.3:p.Asp2157del
  • NC_000013.10:g.23911544ATC[1]
  • NM_014363.4:c.6469_6471delGAT
Protein change:
D2010del
Links:
dbSNP: rs1204242892
NCBI 1000 Genomes Browser:
rs1204242892
Molecular consequence:
  • NM_001278055.2:c.6025GAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_014363.6:c.6466GAT[1] - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000799680Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(May 1, 2018) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000799680.1

#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: Apr 23, 2022