NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001328754.3

Allele description [Variation Report for NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)]

NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)

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.8716C>T (p.Arg2906Ter)
HGVS:
  • NC_000013.11:g.23335160G>A
  • NG_012342.1:g.103543C>T
  • NM_001278055.2:c.8275C>T
  • NM_014363.6:c.8716C>TMANE SELECT
  • NP_001264984.1:p.Arg2759Ter
  • NP_055178.3:p.Arg2906Ter
  • NC_000013.10:g.23909299G>A
  • NM_014363.5:c.8716C>T
Protein change:
R2759*
Links:
dbSNP: rs750732115
NCBI 1000 Genomes Browser:
rs750732115
Molecular consequence:
  • NM_001278055.2:c.8275C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.8716C>T - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
No function
Observations:
1

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
SCV001519944Baylor Geneticscriteria provided, single submitter
Pathogenic
(Dec 26, 2019)
unknownclinical testing

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

SCV001622770Medical Genetics Laboratory,Tarbiat Modares Universitycriteria provided, single submitter
Pathogenic
(Mar 1, 2020)
inheritedclinical testing

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

SCV001760320Genomics England Pilot Project,Genomics Englandno assertion criteria provided
Likely pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
Persianinheritedyes1not 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 Baylor Genetics, SCV001519944.1

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

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

From Medical Genetics Laboratory,Tarbiat Modares University, SCV001622770.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Persian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

From Genomics England Pilot Project,Genomics England, SCV001760320.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 27, 2021

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