NM_020919.4(ALS2):c.4721del (p.Val1574fs) AND Infantile-onset ascending hereditary spastic paralysis

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 10, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000004662.14

Allele description [Variation Report for NM_020919.4(ALS2):c.4721del (p.Val1574fs)]

NM_020919.4(ALS2):c.4721del (p.Val1574fs)

Gene:

ALS2:alsin Rho guanine nucleotide exchange factor ALS2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q33.1

Genomic location:

Preferred name:

NM_020919.4(ALS2):c.4721del (p.Val1574fs)

HGVS:

NC_000002.12:g.201704571del
NG_008775.1:g.81602del
NM_020919.4:c.4721delMANE SELECT
NP_065970.2:p.Val1574fs
LRG_654t1:c.4721del
LRG_654:g.81602del
LRG_654p1:p.Val1574fs
NC_000002.11:g.202569294del
NM_020919.3:c.4721del
NP_065970.2:p.Val1574fs

Nucleotide change:

c.4721delT(4844delT)

Protein change:

V1574fs

Links:

OMIM: 606352.0009; dbSNP: rs386134188

NCBI 1000 Genomes Browser:

rs386134188

Molecular consequence:

NM_020919.4:c.4721del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Infantile-onset ascending hereditary spastic paralysis (IAHSP)
Synonyms:: Spastic paralysis, infantile onset ascending; Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis
Identifiers:: MONDO: MONDO:0011797; MedGen: C2931441; Orphanet: 293168; OMIM: 607225

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024836	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000058635	GeneReviews	no assertion criteria provided	pathologic (Feb 10, 2011)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024836

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2003)

germline

literature only

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

SCV000058635

GeneReviews

no assertion criteria provided

pathologic
(Feb 10, 2011)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.

Gros-Louis F, Meijer IA, Hand CK, Dubé MP, MacGregor DL, Seni MH, Devon RS, Hayden MR, Andermann F, Andermann E, Rouleau GA.

Ann Neurol. 2003 Jan;53(1):144-5. No abstract available.

PubMed [citation]

PMID:: 12509863

Details of each submission

From OMIM, SCV000024836.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a large consanguineous Pakistani family with infantile-onset complicated spastic paraparesis (IAHSP; 607225), Gros-Louis et al. (2003) identified a 1-bp deletion (4844delT) in exon 32 of the ALS2 gene. The proband presented with gait disturbance and hyperreflexia at 18 months and was anarthric and wheelchair-bound by age 12 years. Family history indicated that the disease slowly progressed to tetraplegia and death by the fourth decade, with relatively preserved intellect. The mutation cosegregated with the disease in the family and was absent in 155 control individuals.

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

From GeneReviews, SCV000058635.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Converted during submission to Pathogenic.

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

Last Updated: Apr 20, 2024

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