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NM_014363.6(SACS):c.7991G>T (p.Gly2664Val) AND Charlevoix-Saguenay spastic ataxia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 14, 2016
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:
RCV000449537.1

Allele description [Variation Report for NM_014363.6(SACS):c.7991G>T (p.Gly2664Val)]

NM_014363.6(SACS):c.7991G>T (p.Gly2664Val)

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.7991G>T (p.Gly2664Val)
HGVS:
  • NC_000013.11:g.23335885C>A
  • NG_012342.1:g.102818G>T
  • NM_001278055.2:c.7550G>T
  • NM_014363.6:c.7991G>TMANE SELECT
  • NP_001264984.1:p.Gly2517Val
  • NP_055178.3:p.Gly2664Val
  • NC_000013.10:g.23910024C>A
  • NM_014363.5:c.7991G>T
Protein change:
G2517V
Links:
dbSNP: rs1060499656
NCBI 1000 Genomes Browser:
rs1060499656
Molecular consequence:
  • NM_001278055.2:c.7550G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.7991G>T - 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
SCV000537710Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 14, 2016) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical 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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000537710.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This homozygous variant in the SACS gene was found in a young girl. The mother and the father are both heterozygous for this variant.

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

Last Updated: Apr 23, 2022