U.S. flag

An official website of the United States government

GRCh37/hg19 8q13.3(chr8:70848713-71632067)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 3, 2019
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:
RCV001006112.1

Allele description [Variation Report for GRCh37/hg19 8q13.3(chr8:70848713-71632067)x3]

GRCh37/hg19 8q13.3(chr8:70848713-71632067)x3

Genes:
PRDM14:PR/SET domain 14 [Gene - OMIM - HGNC]
XKR9:XK related 9 [Gene - HGNC]
LACTB2:lactamase beta 2 [Gene - OMIM - HGNC]
NCOA2:nuclear receptor coactivator 2 [Gene - OMIM - HGNC]
TRAM1:translocation associated membrane protein 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8q13.3
Genomic location:
Chr8: 70848713 - 71632067 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8q13.3(chr8:70848713-71632067)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV001165670Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Uncertain significance
    (Jun 3, 2019)
    germlineclinical testing

    Summary from all submissions

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

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001165670.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Apr 23, 2022