NM_014363.6(SACS):c.7139del (p.Asn2380fs) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: May 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000622821.1

Allele description [Variation Report for NM_014363.6(SACS):c.7139del (p.Asn2380fs)]

NM_014363.6(SACS):c.7139del (p.Asn2380fs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.7139del (p.Asn2380fs)
HGVS:
  • NC_000013.11:g.23336741del
  • NG_012342.1:g.101966del
  • NM_001278055.2:c.6698del
  • NM_014363.6:c.7139delMANE SELECT
  • NP_001264984.1:p.Asn2233fs
  • NP_055178.3:p.Asn2380fs
  • NC_000013.10:g.23910876del
  • NC_000013.10:g.23910880del
  • NM_014363.4:c.7139delA
  • NM_014363.5:c.7139del
Protein change:
N2233fs
Links:
dbSNP: rs1057516689
NCBI 1000 Genomes Browser:
rs1057516689
Molecular consequence:
  • NM_001278055.2:c.6698del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.7139del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742597Ambry Geneticscriteria provided, single submitter
Pathogenic
(May 26, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, et al.

Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14.

PubMed [citation]
PMID:
26288984

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.

Bradshaw TY, Romano LE, Duncan EJ, Nethisinghe S, Abeti R, Michael GJ, Giunti P, Vermeer S, Chapple JP.

Hum Mol Genet. 2016 Aug 1;25(15):3232-3244. doi: 10.1093/hmg/ddw173. Epub 2016 Jun 10.

PubMed [citation]
PMID:
27288452
PMCID:
PMC5179924

Details of each submission

From Ambry Genetics, SCV000742597.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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