NM_014363.6(SACS):c.2439_2440del (p.Val815fs) AND Charlevoix-Saguenay spastic ataxia

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

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000169208.2

Allele description [Variation Report for NM_014363.6(SACS):c.2439_2440del (p.Val815fs)]

NM_014363.6(SACS):c.2439_2440del (p.Val815fs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
HGVS:
  • NC_000013.11:g.23341436_23341437del
  • NG_012342.1:g.97266_97267del
  • NM_001278055.2:c.1998_1999del
  • NM_014363.6:c.2439_2440delMANE SELECT
  • NP_001264984.1:p.Val668fs
  • NP_055178.3:p.Val815fs
  • NC_000013.10:g.23915575_23915576del
  • NM_014363.4:c.2439_2440del
  • NM_014363.4:c.2439_2440delAT
  • NM_014363.6:c.2439_2440delATMANE SELECT
Protein change:
V668fs
Links:
dbSNP: rs775059063
NCBI 1000 Genomes Browser:
rs775059063
Molecular consequence:
  • NM_001278055.2:c.1998_1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.2439_2440del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
No function
Observations:
2

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
SCV000220462Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 27, 2014)
unknownliterature only

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

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV001622768Medical Genetics Laboratory,Tarbiat Modares Universitycriteria provided, single submitter
Pathogenic
(Mar 1, 2020)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only
Persianinheritedyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.

Hammer MB, Eleuch-Fayache G, Gibbs JR, Arepalli SK, Chong SB, Sassi C, Bouhlal Y, Hentati F, Amouri R, Singleton AB.

Eur J Neurol. 2013 Mar;20(3):486-492. doi: 10.1111/j.1468-1331.2012.03883.x. Epub 2012 Oct 9.

PubMed [citation]
PMID:
23043354
PMCID:
PMC4669564

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 Counsyl, SCV000220462.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Medical Genetics Laboratory,Tarbiat Modares University, SCV001622768.1

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

Last Updated: Oct 16, 2021

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