NM_004960.4(FUS):c.616G>A (p.Gly206Ser) AND Amyotrophic lateral sclerosis type 6

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 31, 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:: RCV000022557.31

Allele description [Variation Report for NM_004960.4(FUS):c.616G>A (p.Gly206Ser)]

NM_004960.4(FUS):c.616G>A (p.Gly206Ser)

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.616G>A (p.Gly206Ser)

HGVS:

NC_000016.10:g.31185031G>A
NG_012889.2:g.9900G>A
NM_001170634.1:c.613G>A
NM_001170937.1:c.604G>A
NM_004960.4:c.616G>AMANE SELECT
NP_001164105.1:p.Gly205Ser
NP_001164408.1:p.Gly202Ser
NP_004951.1:p.Gly206Ser
LRG_655:g.9900G>A
NC_000016.9:g.31196352G>A
NR_028388.2:n.721G>A

Protein change:

G202S; GLY206SER

Links:

OMIM: 137070.0010; dbSNP: rs387906628

NCBI 1000 Genomes Browser:

rs387906628

Molecular consequence:

NM_001170634.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001170937.1:c.604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004960.4:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_028388.2:n.721G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Amyotrophic lateral sclerosis type 6
Synonyms:: AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia; FUS-Related Amyotrophic Laterial Sclerosis
Identifiers:: MONDO: MONDO:0011951; MedGen: C2931786; Orphanet: 275872; Orphanet: 803; OMIM: 608030

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PIP1B plasma membrane intrinsic protein 1B [Arabidopsis thaliana]
PIP1B plasma membrane intrinsic protein 1B [Arabidopsis thaliana]
Gene ID:819204

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000043846	OMIM	no assertion criteria provided	Pathogenic (Aug 31, 2010)	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

SCV000043846

OMIM

no assertion criteria provided

Pathogenic
(Aug 31, 2010)

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

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia.

Yan J, Deng HX, Siddique N, Fecto F, Chen W, Yang Y, Liu E, Donkervoort S, Zheng JG, Shi Y, Ahmeti KB, Brooks B, Engel WK, Siddique T.

Neurology. 2010 Aug 31;75(9):807-14. doi: 10.1212/WNL.0b013e3181f07e0c. Epub 2010 Jul 28.

PubMed [citation]

PMID:: 20668259
PMCID:: PMC2938970

Details of each submission

From OMIM, SCV000043846.5

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

Description

In a family of South Korean origin with amyotrophic lateral sclerosis (ALS6; 608030), Yan et al. (2010) identified a heterozygous 616G-A transition in exon 6 of the FUS gene, resulting in a gly206-to-ser (G206S) substitution. The proband developed ALS at age 54 years, and his 2 brothers had behavior problems in their forties consistent with frontotemporal dementia.

#	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: Dec 2, 2023

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