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NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs) AND Charlevoix-Saguenay spastic ataxia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 31, 2022
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:
RCV003136367.3

Allele description [Variation Report for NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)]

NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)
HGVS:
  • NC_000013.11:g.23338049AGTA[1]
  • NG_012342.1:g.100647TACT[1]
  • NM_001278055.2:c.5383_5386del
  • NM_014363.6:c.5824_5827delMANE SELECT
  • NP_001264984.1:p.Tyr1795fs
  • NP_055178.3:p.Tyr1942fs
  • NC_000013.10:g.23912188AGTA[1]
  • NC_000013.10:g.23912188_23912191del
Protein change:
Y1795fs
Links:
dbSNP: rs2137615500
NCBI 1000 Genomes Browser:
rs2137615500
Molecular consequence:
  • NM_001278055.2:c.5383_5386del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.5824_5827del - 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
SCV003827337Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 31, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 Revvity Omics, Revvity, SCV003827337.2

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

Last Updated: Sep 29, 2024