NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp) AND Charlevoix-Saguenay spastic ataxia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 24, 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:: RCV000625697.1

Allele description [Variation Report for NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp)]

NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp)

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.9723G>C (p.Glu3241Asp)

HGVS:

NC_000013.11:g.23334153C>G
NG_012342.1:g.104550G>C
NM_001278055.2:c.9282G>C
NM_014363.4:c.9723G>C
NM_014363.6:c.9723G>CMANE SELECT
NP_001264984.1:p.Glu3094Asp
NP_055178.3:p.Glu3241Asp
NC_000013.10:g.23908292C>G

Protein change:

E3094D

Links:

dbSNP: rs772595501

NCBI 1000 Genomes Browser:

rs772595501

Molecular consequence:

NM_001278055.2:c.9282G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014363.6:c.9723G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000703409	Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 24, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000703409

Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 24, 2017)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital, SCV000703409.1

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

Description

The patient carries biallelic mutation c.8579A>G p.(Asn2860Ser) and c.9723G>C p.(Glu3241Asp)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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