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NM_014946.4(SPAST):c.1496G>A (p.Arg499His) AND Abnormal central motor function

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 10, 2021
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:
RCV001814125.1

Allele description [Variation Report for NM_014946.4(SPAST):c.1496G>A (p.Arg499His)]

NM_014946.4(SPAST):c.1496G>A (p.Arg499His)

Gene:
SPAST:spastin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
HGVS:
  • NC_000002.12:g.32141906G>A
  • NG_008730.1:g.83296G>A
  • NM_001363823.2:c.1493G>A
  • NM_001363875.2:c.1397G>A
  • NM_001377959.1:c.1400G>A
  • NM_014946.4:c.1496G>AMANE SELECT
  • NM_199436.2:c.1400G>A
  • NP_001350752.1:p.Arg498His
  • NP_001350804.1:p.Arg466His
  • NP_001364888.1:p.Arg467His
  • NP_055761.2:p.Arg499His
  • NP_055761.2:p.Arg499His
  • NP_955468.1:p.Arg467His
  • LRG_714t1:c.1496G>A
  • LRG_714:g.83296G>A
  • LRG_714p1:p.Arg499His
  • NC_000002.11:g.32366975G>A
  • NM_014946.3:c.1496G>A
  • Q9UBP0:p.Arg499His
Protein change:
R466H
Links:
UniProtKB: Q9UBP0#VAR_026761; dbSNP: rs878854991
NCBI 1000 Genomes Browser:
rs878854991
Molecular consequence:
  • NM_001363823.2:c.1493G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363875.2:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377959.1:c.1400G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014946.4:c.1496G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199436.2:c.1400G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormal central motor function
Identifiers:
MedGen: C4023354; Human Phenotype Ontology: HP:0011442

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755260Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755260.1

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

Last Updated: Sep 29, 2024