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GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2023
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:
RCV003482998.1

Allele description [Variation Report for GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1]

GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1

Genes:
Variant type:
copy number loss
Cytogenetic location:
8p23.3-23.1
Genomic location:
Chr8: 158049 - 10007143 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004231515Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Feb 1, 2023)     		unknownclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004231515.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)

    Description

    The loss of 8p23.3p23.1 involves several protein-coding genes, including DLGAP2 (OMIM 605438), ARHGEF10 (OMIM 608136), and ANGPT2 (OMIM 601922). Smaller copy number losses, contained within the current interval, have been identified in individuals with variable phenotypes (Burnside 2013, Catusi 2021, Shi 2017, Wu 2010). Therefore, based on current medical literature and gene content, this copy number variant (CNV) is classified as pathogenic. _x000D__x000D_ References: Burnside et al., Am J Med Genet A. 2013 Apr;161A(4):822-8. PMID: 23495222 Catusi et al., Genes (Basel). 2021 Apr 27;12(5):652. PMID: 33925474 Shi et al., Mol Med Rep. 2017 Nov;16(5):6837-6845. PMID: 28901431 Wu et al., BMC Med Genet. 2010 May 11;11:72. PMID: 20459802

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

    Last Updated: Feb 4, 2024