NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter) AND Hereditary spastic paraplegia 3A

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:: RCV001261529.2

Allele description [Variation Report for NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter)]

NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter)

Gene:

ATL1:atlastin GTPase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.1

Genomic location:

Preferred name:

NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter)

HGVS:

NC_000014.9:g.50628383G>A
NG_009028.1:g.100302G>A
NM_001127713.1:c.1472G>A
NM_015915.5:c.1472G>AMANE SELECT
NM_181598.4:c.1472G>A
NP_001121185.1:p.Trp491Ter
NP_056999.2:p.Trp491Ter
NP_853629.2:p.Trp491Ter
LRG_360t2:c.1472G>A
LRG_360:g.100302G>A
LRG_360p2:p.Trp491Ter
NC_000014.8:g.51095101G>A

Protein change:

W491*

Links:

dbSNP: rs2039543082

NCBI 1000 Genomes Browser:

rs2039543082

Molecular consequence:

NM_001127713.1:c.1472G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_015915.5:c.1472G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_181598.4:c.1472G>A - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

Unknown function

Observations:

Condition(s)

Name:: Hereditary spastic paraplegia 3A (SPG3A)
Synonyms:: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1; SPG3; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008437; MedGen: C2931355; Orphanet: 100984; OMIM: 182600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001423834	Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	criteria provided, single submitter (Perez et al. (J Hum Genet. 2020))	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

SCV001423834

Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

criteria provided, single submitter

(Perez et al. (J Hum Genet. 2020))

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

Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.

Perez Maturo J, Zavala L, Vega P, González-Morón D, Medina N, Salinas V, Rosales J, Córdoba M, Arakaki T, Garretto N, Rodríguez-Quiroga S, Kauffman MA.

J Hum Genet. 2020 Oct;65(10):895-902. doi: 10.1038/s10038-020-0785-z. Epub 2020 Jun 3.

PubMed [citation]

PMID:: 32488064

Details of each submission

From Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia, SCV001423834.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		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: Jun 23, 2024

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