NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) AND Amyotrophic lateral sclerosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 31, 2020
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:: RCV001260560.2

Allele description [Variation Report for NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)]

NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

Preferred name:

NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)

HGVS:

NC_000002.12:g.201726526C>T
NG_008775.1:g.59647G>A
NM_020919.4:c.3206G>AMANE SELECT
NP_065970.2:p.Gly1069Glu
LRG_654t1:c.3206G>A
LRG_654:g.59647G>A
LRG_654p1:p.Gly1069Glu
NC_000002.11:g.202591249C>T
NM_020919.3:c.3206G>A

Protein change:

G1069E

Links:

dbSNP: rs200706696

NCBI 1000 Genomes Browser:

rs200706696

Molecular consequence:

NM_020919.4:c.3206G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

no known functional consequence

Condition(s)

Name:: Amyotrophic lateral sclerosis (ALS)
Synonyms:: Lou Gehrig disease; Charcot disease
Identifiers:: MONDO: MONDO:0004976; MedGen: C0002736; Human Phenotype Ontology: HP:0007354

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001426191	UM ALS/MND Lab, University Of Malta	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 31, 2020)	unknown	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001426191

UM ALS/MND Lab, University Of Malta

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 31, 2020)

unknown

case-control

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
Maltese	unknown	yes	1	not provided	not provided	not provided	not provided	case-control

Citations

PubMed

Nothing to display

Details of each submission

From UM ALS/MND Lab, University Of Malta, SCV001426191.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Maltese	1	not provided	not provided	case-control	PubMed (1)

Description

The frequency of the Gly1069Glu variant in the ALS2 gene was 0.000376 for ALS cases and 0 for controls in the Project MinE ALS case-control dataset, with this supporting evidence favouring its classification as pathogenic.

#	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: Sep 29, 2024

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