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:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001450962	Paris Brain Institute, Inserm - ICM	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450962

Paris Brain Institute, Inserm - ICM

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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