U.S. flag

An official website of the United States government

GRCh37/hg19 2q13(chr2:111388619-113137529)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 20, 2018
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:
RCV000849362.2

Allele description [Variation Report for GRCh37/hg19 2q13(chr2:111388619-113137529)x3]

GRCh37/hg19 2q13(chr2:111388619-113137529)x3

Genes:
  • BCL2L11:BCL2 like 11 [Gene - OMIM - HGNC]
  • BUB1:BUB1 mitotic checkpoint serine/threonine kinase [Gene - OMIM - HGNC]
  • MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
  • RGPD8:RANBP2 like and GRIP domain containing 8 [Gene - OMIM - HGNC]
  • ACOXL:acyl-CoA oxidase like [Gene - HGNC]
  • ANAPC1:anaphase promoting complex subunit 1 [Gene - OMIM - HGNC]
  • FBLN7:fibulin 7 [Gene - OMIM - HGNC]
  • TMEM87B:transmembrane protein 87B [Gene - OMIM - HGNC]
  • ZC3H6:zinc finger CCCH-type containing 6 [Gene - HGNC]
  • ZC3H8:zinc finger CCCH-type containing 8 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q13
Genomic location:
Chr2: 111388619 - 113137529 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q13(chr2:111388619-113137529)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000991504Bionano Laboratories
    no assertion criteria provided
    		Pathogenic
    (Jul 20, 2018)     		unknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000991504.1

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

    Last Updated: Dec 11, 2022