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NM_004960.4(FUS):c.291C>T (p.Tyr97=) AND Amyotrophic lateral sclerosis type 6

Germline classification:
Benign (2 submissions)
Last evaluated:
Jan 12, 2018
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000576624.6

Allele description [Variation Report for NM_004960.4(FUS):c.291C>T (p.Tyr97=)]

NM_004960.4(FUS):c.291C>T (p.Tyr97=)

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.291C>T (p.Tyr97=)
HGVS:
  • NC_000016.10:g.31183958C>T
  • NG_012889.2:g.8827C>T
  • NM_001170634.1:c.288C>T
  • NM_001170937.1:c.291C>T
  • NM_004960.4:c.291C>TMANE SELECT
  • NP_001164105.1:p.Tyr96=
  • NP_001164408.1:p.Tyr97=
  • NP_004951.1:p.Tyr97=
  • NP_004951.1:p.Tyr97=
  • LRG_655t1:c.291C>T
  • LRG_655:g.8827C>T
  • LRG_655p1:p.Tyr97=
  • NC_000016.9:g.31195279C>T
  • NM_004960.3:c.291C>T
  • NR_028388.2:n.396C>T
  • p.Tyr97Tyr
Links:
dbSNP: rs1052352
NCBI 1000 Genomes Browser:
rs1052352
Molecular consequence:
  • NR_028388.2:n.396C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001170634.1:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001170937.1:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004960.4:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000396631Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Jan 12, 2018) 		germlineclinical testing

Citation Link,

SCV000677302Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(May 31, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000396631.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics, SCV000677302.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024