NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs) AND Charlevoix-Saguenay spastic ataxia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 17, 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:: RCV000670846.1

Allele description [Variation Report for NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)]

NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)

HGVS:

NC_000013.11:g.23334250_23334253del
NG_012342.1:g.104452_104455del
NM_001278055.2:c.9184_9187del
NM_014363.6:c.9625_9628delMANE SELECT
NP_001264984.1:p.Phe3062fs
NP_055178.3:p.Phe3209fs
NC_000013.10:g.23908389_23908392del
NM_014363.4:c.9625_9628delTTTG

Protein change:

F3062fs

Links:

dbSNP: rs1555250557

NCBI 1000 Genomes Browser:

rs1555250557

Molecular consequence:

NM_001278055.2:c.9184_9187del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014363.6:c.9625_9628del - 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
SCV000795757	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Nov 17, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000795757

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Nov 17, 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, SCV000795757.1

#	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: Oct 8, 2024

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