NM_014363.6(SACS):c.2229del (p.Phe743fs) AND Charlevoix-Saguenay spastic ataxia

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003993717.1

Allele description [Variation Report for NM_014363.6(SACS):c.2229del (p.Phe743fs)]

NM_014363.6(SACS):c.2229del (p.Phe743fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.2229del (p.Phe743fs)

HGVS:

NC_000013.11:g.23341649del
NG_012342.1:g.97056del
NM_001278055.2:c.1788del
NM_014363.6:c.2229delMANE SELECT
NP_001264984.1:p.Phe596fs
NP_055178.3:p.Phe743fs
NC_000013.10:g.23915788del

Protein change:

F596fs

Molecular consequence:

NM_001278055.2:c.1788del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014363.6:c.2229del - 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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Carubicin
Carubicin
A very toxic anthracycline-type antineoplastic related to DAUNORUBICIN, obtained from Actinomadura carminata.<br/>Year introduced: 1991(1984)

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004812218	Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	no assertion criteria provided	Likely pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004812218

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology

no assertion criteria provided

Likely pathogenic

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Pashtun	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, SCV004812218.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Pashtun	not provided	not provided	not provided	research	not provided

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

Last Updated: Apr 15, 2024

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