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GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 28, 2019
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:
RCV001537924.4

Allele description [Variation Report for GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1]

GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1

Genes:
Variant type:
copy number loss
Cytogenetic location:
22q13.33
Genomic location:
Chr22: 50099570 - 51187115 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1
HGVS:

    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
    SCV001754852Illumina Laboratory Services, Illumina
    criteria provided, single submitter

    (ICSL CNVClassificationCriteria Jul2020Prior)
    Pathogenic
    (Jan 28, 2019)
    unknownclinical testing

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

    Citation Link

    Summary from all submissions

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

    Citations

    PubMed

    Phelan-McDermid Syndrome-SHANK3 Related..

    Phelan K, Rogers RC, Boccuto L.

    2005 May 11 [updated 2024 Jun 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

    PubMed [citation]
    PMID:
    20301377

    Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.

    Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A.

    Eur J Hum Genet. 2018 Mar;26(3):293-302. doi: 10.1038/s41431-017-0042-x. Epub 2018 Jan 22.

    PubMed [citation]
    PMID:
    29358616
    PMCID:
    PMC5838980

    Details of each submission

    From Illumina Laboratory Services, Illumina, SCV001754852.1

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

    Description

    This CNV is a 1.1 Mb deletion of 22q13.33, on chromosome 22, (seq[GRCh37]del(22)(q13.33qter); chr22:g.50099570_51187115del). This CNV constitutes a terminal deletion encompassing at least 35 genes, including the SHANK3 gene. This CNV overlaps the well-described 22q13.3 deletion syndrome, also known as the Phelan-McDermid syndrome. More than 1,500 individuals with Phelan-McDermid syndrome, the majority of whom have a deletion at 22q13.3, are described in the literature and/or registered with the Phelan-McDermid syndrome Foundation (Phelan et al. 2018). Based on the collective 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