NM_004960.3(FUS):c.1520G>A (p.Gly507Asp) AND Amyotrophic lateral sclerosis type 6

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2010
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:: RCV000017613.24

Allele description

NM_004960.3(FUS):c.1520G>A (p.Gly507Asp)

Gene:

FUS:FUS RNA binding protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_004960.3(FUS):c.1520G>A (p.Gly507Asp)

HGVS:

NC_000016.10:g.31191089G>A
NG_012889.2:g.15958G>A
NM_004960.3:c.1520G>A
NP_004951.1:p.Gly507Asp
LRG_655t1:c.1520G>A
LRG_655:g.15958G>A
LRG_655p1:p.Gly507Asp
NC_000016.9:g.31202410G>A
NR_028388.2:n.1590G>A
P35637:p.Gly507Asp

Protein change:

G507D; GLY507ASP

Links:

UniProtKB: P35637#VAR_068924; OMIM: 137070.0006; dbSNP: rs267606831

NCBI 1000 Genomes Browser:

rs267606831

Molecular consequence:

NM_004960.3:c.1520G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_028388.2:n.1590G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Amyotrophic lateral sclerosis type 6 (ALS6)
Synonyms:: AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA; FUS-Related Amyotrophic Laterial Sclerosis
Identifiers:: MedGen: C1842675; Orphanet: 275872; Orphanet: 803; OMIM: 608030
Age of onset:: Adult
Prevalence:: 1-9 / 100 000 803

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037886	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2010)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 19861302, 20385912

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037886

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2010)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.

Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, Sorarù G, Carlomagno Y, Ghezzi S, Pensato V, Colombrita C, Gagliardi S, Cozzi L, Orsetti V, Mancuso M, Siciliano G, Mazzini L, Comi GP, Gellera C, Ceroni M, D'Alfonso S, Silani V.

J Med Genet. 2010 Mar;47(3):190-4. doi: 10.1136/jmg.2009.071027. Epub 2009 Oct 26.

PubMed [citation]

PMID:: 19861302

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, Williams TL, Ince PG, McDermott CJ, Shaw PJ.

Arch Neurol. 2010 Apr;67(4):455-61. doi: 10.1001/archneurol.2010.52.

PubMed [citation]

PMID:: 20385912

Details of each submission

From OMIM, SCV000037886.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In 2 unrelated Italian patients with sporadic ALS6 (608030), Corrado et al. (2010) identified a heterozygous 1520G-A transition in exon 14 of the FUS gene, resulting in a gly507-to-asp (G507D) substitution in a conserved residue. The mutation was not found in 500 healthy controls.

Hewitt et al. (2010) identified a heterozygous G507D mutation in a U.K. man with predominantly lower motor neuron ALS involving both the lower and upper limbs. He had no family history of neurologic disease, had onset at age 69 years, and died of respiratory failure 42 months after symptom onset. Postmortem examination showed marked loss of lower motor neurons at all spinal levels and neuronal and glial cytoplasmic inclusions, which stained for FUS.

#	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: Jun 26, 2017

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