U.S. flag

An official website of the United States government

GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003885493.8

Allele description [Variation Report for GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1]

GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1

Genes:
LRP1B:LDL receptor related protein 1B [Gene - OMIM - HGNC]
ARHGAP15:Rho GTPase activating protein 15 [Gene - OMIM - HGNC]
GTDC1:glycosyltransferase like domain containing 1 [Gene - OMIM - HGNC]
KYNU:kynureninase [Gene - OMIM - HGNC]
ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q22.2-22.3
Genomic location:
Chr2: 142681355 - 146293674 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

    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
    SCV004698276CeGaT Center for Human Genetics Tuebingen
    criteria provided, single submitter

    (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)    		Pathogenic
    (Jan 1, 2024)     		germlineclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From CeGaT Center for Human Genetics Tuebingen, SCV004698276.8

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Oct 20, 2024