NM_014363.5(SACS):c.[11624G>A];[7276C>T] AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Likely pathogenic (Last evaluated: Jun 10, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000197883.1

Allele description [Variation Report for NM_014363.5(SACS):c.[11624G>A];[7276C>T]]

NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)

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.7276C>T (p.Arg2426Ter)
HGVS:
  • NC_000013.11:g.23336600G>A
  • NG_012342.1:g.102103C>T
  • NM_001278055.2:c.6835C>T
  • NM_014363.6:c.7276C>TMANE SELECT
  • NP_001264984.1:p.Arg2279Ter
  • NP_055178.3:p.Arg2426Ter
  • NC_000013.10:g.23910739G>A
  • NM_014363.4:c.7276C>T
  • NM_014363.5:c.7276C>T
Protein change:
R2279*
Links:
dbSNP: rs786204750
NCBI 1000 Genomes Browser:
rs786204750
Molecular consequence:
  • NM_001278055.2:c.6835C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.7276C>T - nonsense - [Sequence Ontology: SO:0001587]

NM_014363.6(SACS):c.11624G>A (p.Arg3875His)

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.11624G>A (p.Arg3875His)
HGVS:
  • NC_000013.11:g.23332252C>T
  • NG_012342.1:g.106451G>A
  • NM_001278055.2:c.11183G>A
  • NM_014363.6:c.11624G>AMANE SELECT
  • NP_001264984.1:p.Arg3728His
  • NP_055178.3:p.Arg3875His
  • NC_000013.10:g.23906391C>T
  • NM_014363.4:c.11624G>A
Protein change:
R3728H
Links:
dbSNP: rs863224916
NCBI 1000 Genomes Browser:
rs863224916
Molecular consequence:
  • NM_001278055.2:c.11183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.11624G>A - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000255454UCLA Clinical Genomics Center, UCLA - CEScriteria provided, single submitter
Likely pathogenic
(Jun 10, 2014)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]
PMID:
25326637
PMCID:
PMC4278636

Details of each submission

From UCLA Clinical Genomics Center, UCLA - CES, SCV000255454.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2021

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