NM_004960.4(FUS):c.1551C>G (p.His517Gln) AND Amyotrophic lateral sclerosis 6, autosomal recessive

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 27, 2009
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:: RCV000017608.29

Allele description [Variation Report for NM_004960.4(FUS):c.1551C>G (p.His517Gln)]

NM_004960.4(FUS):c.1551C>G (p.His517Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_004960.4(FUS):c.1551C>G (p.His517Gln)

HGVS:

NC_000016.10:g.31191408C>G
NG_012889.2:g.16277C>G
NM_001170634.1:c.1548C>G
NM_001170937.1:c.1539C>G
NM_004960.4:c.1551C>GMANE SELECT
NP_001164105.1:p.His516Gln
NP_001164408.1:p.His513Gln
NP_004951.1:p.His517Gln
LRG_655:g.16277C>G
NC_000016.9:g.31202729C>G
NR_028388.2:n.1621C>G
P35637:p.His517Gln

Protein change:

H513Q; HIS517GLN

Links:

UniProtKB: P35637#VAR_054841; OMIM: 137070.0001; dbSNP: rs121909667

NCBI 1000 Genomes Browser:

rs121909667

Molecular consequence:

NM_001170634.1:c.1548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001170937.1:c.1539C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004960.4:c.1551C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_028388.2:n.1621C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Amyotrophic lateral sclerosis 6, autosomal recessive
Identifiers:: MedGen: C2750729

Recent activity

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hypothetical protein LOC124220 [Homo sapiens]
hypothetical protein LOC124220 [Homo sapiens]
gi|21687060|ref|NP_660295.1|

Protein
hypothetical protein AOL_s00110g174 [Orbilia oligospora ATCC 24927]
hypothetical protein AOL_s00110g174 [Orbilia oligospora ATCC 24927]
gi|345563006|gb|EGX46010.1||gnl|WGS |AOL_s00110g174p

Protein
PREDICTED: Glycine max MSI1 (LOC100127416), transcript variant X2, mRNA
PREDICTED: Glycine max MSI1 (LOC100127416), transcript variant X2, mRNA
gi|2027477589|ref|XM_041017562.1|

Nucleotide
PREDICTED: Medicago truncatula SKP1-like protein 1B (LOC25491809), mRNA
PREDICTED: Medicago truncatula SKP1-like protein 1B (LOC25491809), mRNA
gi|1995129805|ref|XM_024780982.2|

Nucleotide
Homeobox protein HEX homolog pha-2 [Caenorhabditis elegans]
Homeobox protein HEX homolog pha-2 [Caenorhabditis elegans]
gi|922581535|ref|NP_508131.4|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037881	OMIM	no assertion criteria provided	Pathogenic (Feb 27, 2009)	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

SCV000037881

OMIM

no assertion criteria provided

Pathogenic
(Feb 27, 2009)

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

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, et al.

Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066.

PubMed [citation]

PMID:: 19251627

Details of each submission

From OMIM, SCV000037881.3

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

Description

In 4 affected members of a consanguineous family with amyotrophic lateral sclerosis-6 (ALS6; 608030), Kwiatkowski et al. (2009) identified a homozygous 1551C-G transversion in exon 15 of the FUS gene, resulting in a his517-to-gln (H517Q) substitution. The family originated from Cape Verde, a small island off the western coast of Africa. Three asymptomatic family members were also homozygous for the mutation, but all were younger than the mean age at disease onset of 45 years. The mutation was not detected in 1,446 control DNA samples from North America; 1 heterozygote was observed in 132 chromosomes from Cape Verde.

#	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: Nov 19, 2022

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