NM_014363.6(SACS):c.5492del (p.Lys1831fs) AND Charlevoix-Saguenay spastic ataxia

Germline classification:: Likely 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:: RCV001255857.2

Allele description [Variation Report for NM_014363.6(SACS):c.5492del (p.Lys1831fs)]

NM_014363.6(SACS):c.5492del (p.Lys1831fs)

Gene:

SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.5492del (p.Lys1831fs)

HGVS:

NC_000013.11:g.23338385del
NG_012342.1:g.100319del
NM_001278055.2:c.5051del
NM_014363.6:c.5492delMANE SELECT
NP_001264984.1:p.Lys1684fs
NP_055178.3:p.Lys1831fs
NC_000013.10:g.23912524del
NM_001278055.2:c.5051delA

Protein change:

K1684fs

Links:

dbSNP: rs1868862742

NCBI 1000 Genomes Browser:

rs1868862742

Molecular consequence:

NM_001278055.2:c.5051del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014363.6:c.5492del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

Unknown function

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001424044	Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	criteria provided, single submitter (Perez et al. (J Hum Genet. 2020))	Likely pathogenic	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001424044

Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

criteria provided, single submitter

(Perez et al. (J Hum Genet. 2020))

Likely pathogenic

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.

Perez Maturo J, Zavala L, Vega P, González-Morón D, Medina N, Salinas V, Rosales J, Córdoba M, Arakaki T, Garretto N, Rodríguez-Quiroga S, Kauffman MA.

J Hum Genet. 2020 Oct;65(10):895-902. doi: 10.1038/s10038-020-0785-z. Epub 2020 Jun 3.

PubMed [citation]

PMID:: 32488064

Details of each submission

From Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia, SCV001424044.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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