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NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs) AND Charlevoix-Saguenay spastic ataxia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 17, 2017
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:
RCV000669989.1

Allele description [Variation Report for NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs)]

NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs)
HGVS:
  • NC_000013.11:g.23337575_23337576delinsG
  • NG_012342.1:g.101127_101128delinsC
  • NM_001278055.2:c.5859_5860delinsC
  • NM_014363.6:c.6300_6301delinsCMANE SELECT
  • NP_001264984.1:p.Ser1954fs
  • NP_055178.3:p.Ser2101fs
  • NC_000013.10:g.23911714_23911715delinsG
  • NM_014363.4:c.6300_6301delTTinsC
Protein change:
S1954fs
Links:
dbSNP: rs1555251840
NCBI 1000 Genomes Browser:
rs1555251840
Molecular consequence:
  • NM_001278055.2:c.5859_5860delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.6300_6301delinsC - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000794796Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Oct 17, 2017) 		unknownclinical testing

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, SCV000794796.1

#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