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RBPMS-MET fusion

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Interpretation:
other​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 25, 2020)
Last evaluated:
May 19, 2020
Accession:
VCV000978602.1
Variation ID:
978602
Description:
translocation
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RBPMS-MET fusion

Allele ID
966682
Variant type
Translocation
Variant length
-
Cytogenetic location
8p12
Genomic location
-
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
protein fusion [Variation Ontology VariO:0228]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
other 1 criteria provided, single submitter May 19, 2020 RCV001257344.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MET No evidence available No evidence available GRCh38
GRCh37
1573 1619
RBPMS - - GRCh38
GRCh37
3 66

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
other
(May 19, 2020)
criteria provided, single submitter
Method: clinical testing
infantile fibrosarcoma
Allele origin: somatic
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital
Accession: SCV001433870.1
Submitted: (Sep 25, 2020)
Evidence details
Comment:
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 … (more)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
protein fusion
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital
Accession: SCV001433870.1
Submitted: (Sep 25, 2020)
Evidence details

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 01, 2020