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NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs) AND Charlevoix-Saguenay spastic ataxia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 27, 2016
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:
RCV000410665.2

Allele description [Variation Report for NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs)]

NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs)
HGVS:
  • NC_000013.11:g.23336355_23336358del
  • NG_012342.1:g.102348_102351del
  • NM_001278055.2:c.7080_7083del
  • NM_014363.6:c.7521_7524delMANE SELECT
  • NP_001264984.1:p.Glu2360fs
  • NP_055178.3:p.Glu2507fs
  • NC_000013.10:g.23910491_23910494del
  • NC_000013.10:g.23910494_23910497del
  • NM_014363.4:c.7521_7524delAAGA
Protein change:
E2360fs
Links:
dbSNP: rs1057516438
NCBI 1000 Genomes Browser:
rs1057516438
Molecular consequence:
  • NM_001278055.2:c.7080_7083del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.7521_7524del - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000485678Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Jan 27, 2016) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000485678.2

#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: Sep 29, 2024