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t(13;17)(q12.2;q11.2)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 25, 2018)
Last evaluated:
Sep 25, 2018
Accession:
VCV000590265.1
Variation ID:
590265
Description:
translocation
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t(13;17)(q12.2;q11.2)

Allele ID
581207
Variant type
Translocation
Variant length
-
Cytogenetic location
13q12.2
17q11.2
Genomic location
13: 28608270-28608271 (GRCh37) GRCh37 UCSC
17: 27423778-27423779 (GRCh37) GRCh37 UCSC
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Sep 25, 2018 RCV000721113.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLT3 - - GRCh38
GRCh37
170 204
MYO18A - - GRCh38
GRCh37
23 40

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 25, 2018)
no assertion criteria provided
Method: clinical testing
Atypical chronic myeloid leukemia
Allele origin: unknown
Knight Cancer Institute, Oregon Health and Science University
Accession: SCV000845774.1
Submitted: (Sep 25, 2018)
Evidence details
Publications
PubMed (6)
Comment:
Primary patient samples are sensitive to kinase inhibitors (quizartinib and sorafenib)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
A novel TRIP11-FLT3 fusion in a patient with a myeloid/lymphoid neoplasm with eosinophilia. Chung A Cancer genetics 2017 PMID: 29025582
Multiple <i>MYO18A</i>-<i>PDGFRB</i> fusion transcripts in a myeloproliferative neoplasm patient with t(5;17)(q32;q11). Sheng G Molecular cytogenetics 2017 PMID: 28261327
A novel t(3;13)(q13;q12) translocation fusing FLT3 with GOLGB1: toward myeloid/lymphoid neoplasms with eosinophilia and rearrangement of FLT3? Troadec E Leukemia 2017 PMID: 27795560
A three-way translocation of MLL, MLLT11, and the novel reciprocal partner gene MYO18A in a child with acute myeloid leukemia. Ussowicz M Cancer genetics 2012 PMID: 22682626
A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy. Grand FH Experimental hematology 2007 PMID: 17764812
The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1. Walz C Leukemia 2005 PMID: 15800673

Record last updated Oct 08, 2021