U.S. flag

An official website of the United States government

NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 5, 2020
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:
RCV001772134.2

Allele description [Variation Report for NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys)]

NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys)

Gene:
SPAST:spastin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys)
Other names:
p.Glu418Lys
HGVS:
  • NC_000002.12:g.32136569G>A
  • NG_008730.1:g.77959G>A
  • NM_001363823.2:c.1249G>A
  • NM_001363875.2:c.1153G>A
  • NM_001377959.1:c.1156G>A
  • NM_014946.4:c.1252G>AMANE SELECT
  • NM_199436.2:c.1156G>A
  • NP_001350752.1:p.Glu417Lys
  • NP_001350804.1:p.Glu385Lys
  • NP_001364888.1:p.Glu386Lys
  • NP_055761.2:p.Glu418Lys
  • NP_055761.2:p.Glu418Lys
  • NP_955468.1:p.Glu386Lys
  • LRG_714t1:c.1252G>A
  • LRG_714:g.77959G>A
  • LRG_714p1:p.Glu418Lys
  • NC_000002.11:g.32361638G>A
  • NM_014946.3:c.1252G>A
Protein change:
E385K
Links:
dbSNP: rs1553318164
NCBI 1000 Genomes Browser:
rs1553318164
Molecular consequence:
  • NM_001363823.2:c.1249G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363875.2:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377959.1:c.1156G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014946.4:c.1252G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199436.2:c.1156G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002001902GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Feb 5, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002001902.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in nearby residues reported in the Human Gene Mutation Database (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31594988)

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

Last Updated: Oct 26, 2024