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GRCh37/hg19 8p23.3-23.2(chr8:162190-4698813)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2021
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:
RCV001795542.4

Allele description [Variation Report for GRCh37/hg19 8p23.3-23.2(chr8:162190-4698813)x1]

GRCh37/hg19 8p23.3-23.2(chr8:162190-4698813)x1

Genes:
Variant type:
copy number loss
Cytogenetic location:
8p23.3-23.2
Genomic location:
Chr8: 162190 - 4698813 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8p23.3-23.2(chr8:162190-4698813)x1
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002034745Illumina Laboratory Services, Illumina
    criteria provided, single submitter

    (ICSL CNVClassificationCriteria Aug2020)    		Pathogenic
    (Oct 1, 2021)     		unknownclinical testing

    PubMed (2)
    [See all records that cite these PMIDs]

    Citation Link

    Help

    Summary from all submissions

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

    Citations

    PubMed

    DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

    Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP.

    Am J Hum Genet. 2009 Apr;84(4):524-33. doi: 10.1016/j.ajhg.2009.03.010. Epub 2009 Apr 2.

    PubMed [citation]
    PMID:
    19344873
    PMCID:
    PMC2667985

    Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.

    Shi S, Lin S, Chen B, Zhou Y.

    Mol Med Rep. 2017 Nov;16(5):6837-6845. doi: 10.3892/mmr.2017.7438. Epub 2017 Sep 7.

    PubMed [citation]
    PMID:
    28901431
    PMCID:
    PMC5865842

    Details of each submission

    From Illumina Laboratory Services, Illumina, SCV002034745.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (2)

    Description

    This CNV is a 4.5 Mb deletion of 8p23.2p23.3 on chromosome 8, (seq[GRCh37]del(8)(p23.2p23.3); chr8:162190_4698813del). This CNV constitutes a loss of ten protein-coding genes. Several patients have been reported in the literature and in the DECIPHER database with terminal deletions of the p arm of chromosome 8 ranging in size from 0.1Mb to 6.0Mb (Firth et al. 2009; Shi et al. 2017). Common features among reported individuals include intellectual disability, developmental delay, microcephaly, and various dysmorphic features. Based on the available evidence, this CNV is classified as pathogenic.

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

    Last Updated: Apr 9, 2023