NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) AND Charlevoix-Saguenay spastic ataxia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 13, 2020
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:: RCV001273197.1

Allele description [Variation Report for NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)]

NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)

HGVS:

NC_000013.11:g.23334199T>C
NG_012342.1:g.104504A>G
NM_001278055.2:c.9236A>G
NM_014363.6:c.9677A>GMANE SELECT
NP_001264984.1:p.Tyr3079Cys
NP_055178.3:p.Tyr3226Cys
NC_000013.10:g.23908338T>C
NC_000013.10:g.23908338T>C
NM_014363.4:c.9677A>G

Protein change:

Y3079C

Links:

dbSNP: rs776143384

NCBI 1000 Genomes Browser:

rs776143384

Molecular consequence:

NM_001278055.2:c.9236A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014363.6:c.9677A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001455919	Natera, Inc.	no assertion criteria provided	Uncertain significance (Feb 13, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001455919

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Feb 13, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001455919.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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