NM_014363.6(SACS):c.5937_5939del (p.Ser1980del) AND Charlevoix-Saguenay spastic ataxia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 2017
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:: RCV000671647.1

Allele description [Variation Report for NM_014363.6(SACS):c.5937_5939del (p.Ser1980del)]

NM_014363.6(SACS):c.5937_5939del (p.Ser1980del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.5937_5939del (p.Ser1980del)

HGVS:

NC_000013.11:g.23337937_23337939del
NG_012342.1:g.100764_100766del
NM_001278055.2:c.5496_5498del
NM_014363.6:c.5937_5939delMANE SELECT
NP_001264984.1:p.Ser1833del
NP_055178.3:p.Ser1980del
NC_000013.10:g.23912076_23912078del
NM_014363.4:c.5937_5939delCTC

Protein change:

S1833del

Links:

dbSNP: rs1555251980

NCBI 1000 Genomes Browser:

rs1555251980

Molecular consequence:

NM_001278055.2:c.5496_5498del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_014363.6:c.5937_5939del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000796640	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 28, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796640

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Dec 28, 2017)

unknown

clinical testing

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

Details of each submission

From Counsyl, SCV000796640.1

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

#	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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