NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs) AND Charlevoix-Saguenay spastic ataxia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 23, 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:: RCV000670135.1

Allele description [Variation Report for NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs)]

NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs)

HGVS:

NC_000013.11:g.23337521_23337524del
NG_012342.1:g.101180_101183del
NM_001278055.2:c.5912_5915del
NM_014363.6:c.6353_6356delMANE SELECT
NP_001264984.1:p.Gly1971fs
NP_055178.3:p.Gly2118fs
NC_000013.10:g.23911660_23911663del
NM_014363.4:c.6353_6356delGACG

Protein change:

G1971fs

Links:

dbSNP: rs1555251818

NCBI 1000 Genomes Browser:

rs1555251818

Molecular consequence:

NM_001278055.2:c.5912_5915del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014363.6:c.6353_6356del - 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
SCV000794953	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Oct 23, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000794953

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Oct 23, 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, SCV000794953.1

#	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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