NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) AND Motor neuron disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 31, 2016
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:: RCV000492720.1

Allele description [Variation Report for NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)]

NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)

Gene:

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.280G>C (p.Gly94Arg)

Other names:

G93R

HGVS:

NC_000021.9:g.31667298G>C
NG_008689.1:g.12677G>C
NM_000454.5:c.280G>CMANE SELECT
NP_000445.1:p.Gly94Arg
NP_000445.1:p.Gly94Arg
LRG_652t1:c.280G>C
LRG_652:g.12677G>C
LRG_652p1:p.Gly94Arg
NC_000021.8:g.33039611G>C
NM_000454.4:c.280G>C
P00441:p.Gly94Arg

Protein change:

G94R; GLY93ARG

Links:

UniProtKB: P00441#VAR_007149; OMIM: 147450.0033; dbSNP: rs121912437

NCBI 1000 Genomes Browser:

rs121912437

Molecular consequence:

NM_000454.5:c.280G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Motor neuron disease
Synonyms:: Degenerative motor system disease; Motor neuron disorder
Identifiers:: MONDO: MONDO:0020128; MedGen: C0085084

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000323229	Centre for Genomic and Experimental Medicine, University of Edinburgh	criteria provided, single submitter (Submitter's publication)	Pathogenic (Aug 31, 2016)	unknown	case-control	PubMed (1) [See all records that cite this PMID] publication submitted

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000323229

Centre for Genomic and Experimental Medicine, University of Edinburgh

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Aug 31, 2016)

unknown

case-control

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

publication submitted

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	1	not provided	case-control

Citations

PubMed

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

Black HA, Leighton DJ, Cleary EM, Rose E, Stephenson L, Colville S, Ross D, Warner J, Porteous M, Gorrie GH, Swingler R, Goldstein D, Harms MB, Connick P, Pal S, Aitman TJ, Chandran S.

Neurobiol Aging. 2017 Mar;51:178.e11-178.e20. doi: 10.1016/j.neurobiolaging.2016.12.013. Epub 2016 Dec 21. Erratum in: Neurobiol Aging. 2017 Aug;56:214. doi: 10.1016/j.neurobiolaging.2017.04.019.

PubMed [citation]

PMID:: 28089114
PMCID:: PMC5302213

Details of each submission

From Centre for Genomic and Experimental Medicine, University of Edinburgh, SCV000323229.1

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

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

Last Updated: Sep 29, 2024

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