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NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) AND Charlevoix-Saguenay spastic ataxia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 13, 2004
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:
RCV000005854.3

Allele description [Variation Report for NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg)]

NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg)

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.9742T>C (p.Trp3248Arg)
Other names:
W2498R
HGVS:
  • NC_000013.11:g.23334134A>G
  • NG_012342.1:g.104569T>C
  • NM_001278055.2:c.9301T>C
  • NM_014363.6:c.9742T>CMANE SELECT
  • NP_001264984.1:p.Trp3101Arg
  • NP_055178.3:p.Trp3248Arg
  • NC_000013.10:g.23908273A>G
  • Q9NZJ4:p.Trp3248Arg
Protein change:
W3101R; TRP2498ARG
Links:
UniProtKB: Q9NZJ4#VAR_064816; OMIM: 604490.0008; dbSNP: rs137853018
NCBI 1000 Genomes Browser:
rs137853018
Molecular consequence:
  • NM_001278055.2:c.9301T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.9742T>C - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026036OMIM
no assertion criteria provided
Pathogenic
(Jan 13, 2004) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of a SACS gene missense mutation in ARSACS.

Ogawa T, Takiyama Y, Sakoe K, Mori K, Namekawa M, Shimazaki H, Nakano I, Nishizawa M.

Neurology. 2004 Jan 13;62(1):107-9.

PubMed [citation]
PMID:
14718708

Details of each submission

From OMIM, SCV000026036.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Japanese sister and brother with spastic ataxia of the Charlevoix-Saguenay type (ARSACS; 270550), Ogawa et al. (2004) identified a homozygous 7492T-C transition in the SACS gene, resulting in a trp2498-to-arg (W2498R) substitution in a conserved residue. The mutation was not found in 200 Japanese controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022