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GRCh37/hg19 16q24.3(chr16:90089006-90274440)x3 AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000509514.1

Allele description [Variation Report for GRCh37/hg19 16q24.3(chr16:90089006-90274440)x3]

GRCh37/hg19 16q24.3(chr16:90089006-90274440)x3

Genes:
GAS8-AS1:GAS8 antisense RNA 1 [Gene - OMIM - HGNC]
PRDM7:PR/SET domain 7 [Gene - OMIM - HGNC]
GAS8:growth arrest specific 8 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16q24.3
Genomic location:
Chr16: 90089006 - 90274440 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16q24.3(chr16:90089006-90274440)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000607178GenomeConnect, ClinGen
    no classification provided
    		not providedunknownphenotyping only

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

    Details of each submission

    From GenomeConnect, ClinGen, SCV000607178.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedphenotyping onlynot provided

    Description

    GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

    Last Updated: Apr 23, 2022