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t(8;9)(q24.22;q34.13) AND Neoplasm of the pancreas

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 6, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002245642.9

Allele description [Variation Report for t(8;9)(q24.22;q34.13)]

t(8;9)(q24.22;q34.13)

Genes:
TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
TMEM71:transmembrane protein 71 [Gene - OMIM - HGNC]
Variant type:
Translocation
Cytogenetic location:
8q24.22
Genomic location:
Preferred name:
t(8;9)(q24.22;q34.13)
HGVS:
    Functional consequence:
    • Gene fusion [Sequence Ontology: SO:0001565]
    • loss of heterozygosity [Sequence Ontology: SO:0001786] - Comment(s)
    • loss_of_function_variant [Sequence Ontology: SO:0002054]

    Condition(s)

    Name:
    Neoplasm of the pancreas
    Synonyms:
    Pancreatic neoplasm
    Identifiers:
    MONDO: MONDO:0021040; MeSH: D010190; MedGen: C0030297; Human Phenotype Ontology: HP:0002894

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000897763Genome Sciences Centre, British Columbia Cancer Agency
    no assertion criteria provided
    		Pathogenic
    (Dec 6, 2017)     		somaticresearch

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedsomaticyes1not providednot providednot providednot providedresearch

    Details of each submission

    From Genome Sciences Centre, British Columbia Cancer Agency, SCV000897763.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedresearchnot provided

    Description

    TSC1 mutations are known to be causative in Pancreatic Neuroendocrine tumours

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1somaticyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Oct 8, 2024