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GRCh37/hg19 1q21.1-21.2(chr1:146626685-147597284)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2022
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:
RCV002292765.4

Allele description

GRCh37/hg19 1q21.1-21.2(chr1:146626685-147597284)x1

Genes:
  • BCL9:BCL9 transcription coactivator [Gene - OMIM - HGNC]
  • GPR89B:G protein-coupled receptor 89B [Gene - OMIM - HGNC]
  • ACP6:acid phosphatase 6, lysophosphatidic [Gene - OMIM - HGNC]
  • CHD1L:chromodomain helicase DNA binding protein 1 like [Gene - OMIM - HGNC]
  • FMO5:flavin containing dimethylaniline monoxygenase 5 [Gene - OMIM - HGNC]
  • GJA5:gap junction protein alpha 5 [Gene - OMIM - HGNC]
  • GJA8:gap junction protein alpha 8 [Gene - OMIM - HGNC]
  • PRKAB2:protein kinase AMP-activated non-catalytic subunit beta 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q21.1-21.2
Genomic location:
Chr1: 146626685 - 147597284 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1q21.1-21.2(chr1:146626685-147597284)x1
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV002585202CeGaT Center for Human Genetics Tuebingen
    criteria provided, single submitter

    (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)
    Pathogenic
    (Aug 1, 2022)
    germlineclinical testing

    Citation Link

    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, SCV002585202.4

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

    Last Updated: Sep 16, 2023