NM_014363.6(SACS):c.1441G>T (p.Glu481Ter) AND Spastic paraplegia

Clinical significance:Pathogenic (Last evaluated: Nov 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000802055.1

Allele description [Variation Report for NM_014363.6(SACS):c.1441G>T (p.Glu481Ter)]

NM_014363.6(SACS):c.1441G>T (p.Glu481Ter)

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.1441G>T (p.Glu481Ter)
HGVS:
  • NC_000013.11:g.23355171C>A
  • NG_012342.1:g.83532G>T
  • NM_001278055.2:c.1000G>T
  • NM_014363.6:c.1441G>TMANE SELECT
  • NP_001264984.1:p.Glu334Ter
  • NP_055178.3:p.Glu481Ter
  • NC_000013.10:g.23929310C>A
  • NM_014363.5:c.1441G>T
Protein change:
E334*
Links:
dbSNP: rs1593144887
NCBI 1000 Genomes Browser:
rs1593144887
Molecular consequence:
  • NM_001278055.2:c.1000G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.1441G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Spastic paraplegia
Synonyms:
Spastic paraplegia, lower limb
Identifiers:
MedGen: C0037772; Human Phenotype Ontology: HP:0001258

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000941868Invitaecriteria provided, single submitter
Pathogenic
(Nov 16, 2018)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000941868.1

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

Description

This sequence change creates a premature translational stop signal (p.Glu481*) in the SACS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SACS-related disease. Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jun 27, 2020

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