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NM_014946.4(SPAST):c.340G>T (p.Glu114Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 16, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003482387.2

Allele description [Variation Report for NM_014946.4(SPAST):c.340G>T (p.Glu114Ter)]

NM_014946.4(SPAST):c.340G>T (p.Glu114Ter)

Gene:
SPAST:spastin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_014946.4(SPAST):c.340G>T (p.Glu114Ter)
HGVS:
  • NC_000002.12:g.32064171G>T
  • NG_008730.1:g.5561G>T
  • NM_001363823.2:c.340G>T
  • NM_001363875.2:c.340G>T
  • NM_001377959.1:c.340G>T
  • NM_014946.3:c.340G>T
  • NM_014946.4:c.340G>TMANE SELECT
  • NM_199436.2:c.340G>T
  • NP_001350752.1:p.Glu114Ter
  • NP_001350804.1:p.Glu114Ter
  • NP_001364888.1:p.Glu114Ter
  • NP_055761.2:p.Glu114Ter
  • NP_955468.1:p.Glu114Ter
  • LRG_714t1:c.340G>T
  • LRG_714:g.5561G>T
  • NC_000002.11:g.32289240G>T
Protein change:
E114*
Links:
dbSNP: rs1553394608
NCBI 1000 Genomes Browser:
rs1553394608
Molecular consequence:
  • NM_001363823.2:c.340G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363875.2:c.340G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377959.1:c.340G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014946.4:c.340G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_199436.2:c.340G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004229197Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(May 16, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA.

Am J Hum Genet. 2001 May;68(5):1077-85. Epub 2001 Apr 16.

PubMed [citation]
PMID:
11309678
PMCID:
PMC1226088

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 Athena Diagnostics, SCV004229197.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant is expected to result in the loss of a functional protein. This variant has been identified in at least one individual with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).

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

Last Updated: Sep 29, 2024