NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs) 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:: RCV002284304.1

Allele description [Variation Report for NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs)]

NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs)

HGVS:

NC_000013.11:g.23333430_23333433del
NG_012342.1:g.105271_105274del
NM_001278055.2:c.10003_10006del
NM_014363.6:c.10444_10447delMANE SELECT
NP_001264984.1:p.Leu3335fs
NP_055178.3:p.Leu3482fs
NC_000013.10:g.23907569_23907572del
NM_014363.5:c.10444_10447del

Protein change:

L3335fs

Molecular consequence:

NM_001278055.2:c.10003_10006del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014363.6:c.10444_10447del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002573712	Department of Biochemistry, Faculty of Medicine, University of Khartoum	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	biparental	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002573712

Department of Biochemistry, Faculty of Medicine, University of Khartoum

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

biparental

research

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	biparental	yes	3	1	not provided	not provided	yes	research

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 Department of Biochemistry, Faculty of Medicine, University of Khartoum, SCV002573712.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	yes	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	biparental	yes	not provided	not provided	not provided		3	not provided	1	not provided

Last Updated: Sep 24, 2022

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