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NM_014946.4(SPAST):c.1169T>A (p.Met390Lys) AND Hereditary spastic paraplegia 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 8, 2017
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:
RCV000578366.5

Allele description [Variation Report for NM_014946.4(SPAST):c.1169T>A (p.Met390Lys)]

NM_014946.4(SPAST):c.1169T>A (p.Met390Lys)

Gene:
SPAST:spastin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_014946.4(SPAST):c.1169T>A (p.Met390Lys)
HGVS:
  • NC_000002.12:g.32127018T>A
  • NG_008730.1:g.68408T>A
  • NM_001363823.2:c.1166T>A
  • NM_001363875.2:c.1070T>A
  • NM_001377959.1:c.1073T>A
  • NM_014946.4:c.1169T>AMANE SELECT
  • NM_199436.2:c.1073T>A
  • NP_001350752.1:p.Met389Lys
  • NP_001350804.1:p.Met357Lys
  • NP_001364888.1:p.Met358Lys
  • NP_055761.2:p.Met390Lys
  • NP_955468.1:p.Met358Lys
  • LRG_714:g.68408T>A
  • NC_000002.11:g.32352087T>A
Protein change:
M357K
Links:
dbSNP: rs1131691977
NCBI 1000 Genomes Browser:
rs1131691977
Molecular consequence:
  • NM_001363823.2:c.1166T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363875.2:c.1070T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377959.1:c.1073T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014946.4:c.1169T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199436.2:c.1073T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary spastic paraplegia 4
Synonyms:
Spastic paraplegia 4, autosomal dominant; Familial spastic paraplegia autosomal dominant 2
Identifiers:
MONDO: MONDO:0008438; MedGen: C1866855; Orphanet: 100985; OMIM: 182601

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680387Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)
Pathogenic
(Sep 8, 2017)
de novoclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000680387.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024