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NM_014946.4(SPAST):c.1242A>G (p.Lys414=) AND Hereditary spastic paraplegia 4

Germline classification:
Pathogenic (1 submission)
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:
RCV001391509.1

Allele description [Variation Report for NM_014946.4(SPAST):c.1242A>G (p.Lys414=)]

NM_014946.4(SPAST):c.1242A>G (p.Lys414=)

Gene:
SPAST:spastin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_014946.4(SPAST):c.1242A>G (p.Lys414=)
HGVS:
  • NC_000002.12:g.32128476A>G
  • NG_008730.1:g.69866A>G
  • NM_001363823.2:c.1239A>G
  • NM_001363875.2:c.1143A>G
  • NM_001377959.1:c.1146A>G
  • NM_014946.4:c.1242A>GMANE SELECT
  • NM_199436.2:c.1146A>G
  • NP_001350752.1:p.Lys413=
  • NP_001350804.1:p.Lys381=
  • NP_001364888.1:p.Lys382=
  • NP_055761.2:p.Lys414=
  • NP_955468.1:p.Lys382=
  • LRG_714:g.69866A>G
  • NC_000002.11:g.32353545A>G
Links:
dbSNP: rs1553317048
NCBI 1000 Genomes Browser:
rs1553317048
Molecular consequence:
  • NM_001363823.2:c.1239A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363875.2:c.1143A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001377959.1:c.1146A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014946.4:c.1242A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_199436.2:c.1146A>G - synonymous variant - [Sequence Ontology: SO:0001819]
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001450962Paris Brain Institute, Inserm - ICM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 Paris Brain Institute, Inserm - ICM, SCV001450962.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023