NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs) AND Charlevoix-Saguenay spastic ataxia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 2, 2018
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:: RCV000671797.1

Allele description [Variation Report for NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs)]

NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs)

HGVS:

NC_000013.11:g.23337885AG[1]
NG_012342.1:g.100815CT[1]
NM_001278055.2:c.5549_5550del
NM_014363.6:c.5990_5991delMANE SELECT
NP_001264984.1:p.Ser1850fs
NP_055178.3:p.Ser1997fs
NC_000013.10:g.23912024AG[1]
NM_014363.4:c.5990_5991delCT

Protein change:

S1850fs

Links:

dbSNP: rs1555251963

NCBI 1000 Genomes Browser:

rs1555251963

Molecular consequence:

NM_001278055.2:c.5549_5550del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014363.6:c.5990_5991del - 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
SCV000796817	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jan 2, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796817

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Jan 2, 2018)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.

Shimazaki H, Sakoe K, Niijima K, Nakano I, Takiyama Y.

J Neurol Sci. 2007 Apr 15;255(1-2):87-9. Epub 2007 Mar 8.

PubMed [citation]

PMID:: 17349660

Details of each submission

From Counsyl, SCV000796817.1

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

Last Updated: Apr 23, 2022

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