U.S. flag

An official website of the United States government

NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter) AND Charlevoix-Saguenay spastic ataxia

Germline classification:
Pathogenic (1 submission)
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:
RCV001391622.1

Allele description [Variation Report for NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)]

NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)
HGVS:
  • NC_000013.11:g.23337750G>T
  • NG_012342.1:g.100953C>A
  • NM_001278055.2:c.5685C>A
  • NM_014363.6:c.6126C>AMANE SELECT
  • NP_001264984.1:p.Cys1895Ter
  • NP_055178.3:p.Cys2042Ter
  • NC_000013.10:g.23911889G>T
  • NM_014363.5:c.6126C>A
Protein change:
C1895*
Links:
dbSNP: rs761655321
NCBI 1000 Genomes Browser:
rs761655321
Molecular consequence:
  • NM_001278055.2:c.5685C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.6126C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451183Paris Brain Institute, Inserm - ICM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicunknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Paris Brain Institute, Inserm - ICM, SCV001451183.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024