RBPMS-MET fusion AND Infantile fibrosarcoma

Clinical significance:other (Last evaluated: May 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001257344.1

Allele description [Variation Report for RBPMS-MET fusion]

RBPMS-MET fusion

Genes:
MET:MET proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
RBPMS:RNA binding protein, mRNA processing factor [Gene - OMIM - HGNC]
Variant type:
Translocation
Cytogenetic location:
8p12
Preferred name:
RBPMS-MET fusion
HGVS:
Functional consequence:
protein fusion [Variation Ontology: 0228]

Condition(s)

Name:
Infantile fibrosarcoma
Identifiers:
MONDO: MONDO:0004557; MedGen: C0334459

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001433870Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospitalcriteria provided, single submitter
other
(May 19, 2020)
somaticclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN.

J Mol Diagn. 2017 Jan;19(1):4-23. doi: 10.1016/j.jmoldx.2016.10.002. Review.

PubMed [citation]
PMID:
27993330
PMCID:
PMC5707196

Details of each submission

From Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital, SCV001433870.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This in-frame fusion event connects exon 5 of RBPMS (NM_006867.3) and exon 15 of MET (NM_000245.2), resulting in a 513-amino-acid chimeric protein. The fusion product results in juxtaposition of RBPMS, including the dimerization domain localized within the RNA recognition motif (RRM), to the intact MET protein kinase domain, a configuration predicted to result in kinase fusion gene activation.

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

Last Updated: Oct 1, 2020

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