NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jun 29, 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:
RCV000297710.5

Allele description [Variation Report for NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)]

NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)

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.9508C>T (p.Arg3170Ter)
HGVS:
  • NC_000013.11:g.23334368G>A
  • NG_012342.1:g.104335C>T
  • NM_001278055.2:c.9067C>T
  • NM_014363.6:c.9508C>TMANE SELECT
  • NP_001264984.1:p.Arg3023Ter
  • NP_055178.3:p.Arg3170Ter
  • NC_000013.10:g.23908507G>A
  • NM_014363.4:c.9508C>T
  • NM_014363.5:c.9508C>T
Protein change:
R3023*
Links:
dbSNP: rs202199411
NCBI 1000 Genomes Browser:
rs202199411
Molecular consequence:
  • NM_001278055.2:c.9067C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.9508C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000329910GeneDxcriteria provided, single submitter
Likely pathogenic
(Jun 29, 2020)
germlineclinical testing

Citation Link,

SCV000843554Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Mar 11, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Diversity of ARSACS mutations in French-Canadians.

Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B.

Can J Neurol Sci. 2013 Jan;40(1):61-6.

PubMed [citation]
PMID:
23250129

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000329910.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 1410 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database [(Stenson et al., 2014); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23250129, 31980526)

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

From Athena Diagnostics Inc, SCV000843554.1

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

Last Updated: Oct 8, 2021

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