NM_004960.4(FUS):c.613_621del (p.Ser205_Gly207del) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 2020
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:: RCV002360344.2

Allele description [Variation Report for NM_004960.4(FUS):c.613_621del (p.Ser205_Gly207del)]

NM_004960.4(FUS):c.613_621del (p.Ser205_Gly207del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_004960.4(FUS):c.613_621del (p.Ser205_Gly207del)

HGVS:

NC_000016.10:g.31185028_31185036del
NG_012889.2:g.9897_9905del
NM_001170634.1:c.610_618del
NM_001170937.1:c.601_609del
NM_004960.4:c.613_621delMANE SELECT
NP_001164105.1:p.Ser204_Gly206del
NP_001164408.1:p.Ser201_Gly203del
NP_004951.1:p.Ser205_Gly207del
NP_004951.1:p.Ser205_Gly207del
LRG_655t1:c.613_621del
LRG_655:g.9897_9905del
LRG_655p1:p.Ser205_Gly207del
NC_000016.9:g.31196349_31196357del
NM_004960.3:c.613_621delAGCGGTGGC
NR_028388.2:n.718_726del

Molecular consequence:

NM_001170634.1:c.610_618del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001170937.1:c.601_609del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004960.4:c.613_621del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_028388.2:n.718_726del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002654428	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 23, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002654428

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 23, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002654428.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.613_621delAGCGGTGGC variant (also known as p.S205_G207del) is located in coding exon 6 of the FUS gene. This variant results from an in-frame AGCGGTGGC deletion at nucleotide positions 613 to 621. This results in the in-frame deletion of three amino acids between codons 205 and 207. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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