NM_000454.5(SOD1):c.64G>A (p.Glu22Lys) AND Amyotrophic lateral sclerosis type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 1994
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:: RCV000015896.26

Allele description [Variation Report for NM_000454.5(SOD1):c.64G>A (p.Glu22Lys)]

NM_000454.5(SOD1):c.64G>A (p.Glu22Lys)

Genes:

SOD1-DT:SOD1 divergent transcript [Gene - HGNC]
SOD1:superoxide dismutase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

Preferred name:

NM_000454.5(SOD1):c.64G>A (p.Glu22Lys)

Other names:

E21K

HGVS:

NC_000021.9:g.31659833G>A
NG_008689.1:g.5212G>A
NM_000454.5:c.64G>AMANE SELECT
NP_000445.1:p.Glu22Lys
LRG_652:g.5212G>A
NC_000021.8:g.33032146G>A
P00441:p.Glu22Lys

Protein change:

E22K; GLU21LYS

Links:

UniProtKB: P00441#VAR_007135; OMIM: 147450.0022; dbSNP: rs121912450

NCBI 1000 Genomes Browser:

rs121912450

Molecular consequence:

NM_000454.5:c.64G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Amyotrophic lateral sclerosis type 1 (ALS1)
Synonyms:: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
Identifiers:: MONDO: MONDO:0007103; MedGen: C1862939; Orphanet: 803; OMIM: 105400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036163	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 1994)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036163

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 1994)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.

Jones CT, Swingler RJ, Brock DJ.

Hum Mol Genet. 1994 Apr;3(4):649-50. No abstract available.

PubMed [citation]

PMID:: 8069312

Details of each submission

From OMIM, SCV000036163.2

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

Description

In a Scottish patient with sporadic ALS (105400), Jones et al. (1994) identified a G-to-A transition in the SOD1 gene, resulting in a glu21-to-lys (E21K) substitution. The transition occurs at a CpG dinucleotide and may have arisen via deamination of methylcytosine.

#	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

Last Updated: Oct 14, 2023

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