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GRCh37/hg19 4q13.3(chr4:71271311-71502766)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 4, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003482183.1

Allele description [Variation Report for GRCh37/hg19 4q13.3(chr4:71271311-71502766)x1]

GRCh37/hg19 4q13.3(chr4:71271311-71502766)x1

Genes:
Variant type:
copy number loss
Cytogenetic location:
4q13.3
Genomic location:
Chr4: 71237514 - 71507771 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4q13.3(chr4:71271311-71502766)x1
HGVS:
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004223865Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
    no assertion criteria provided
    		Uncertain significance
    (Jan 4, 2024)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    ENAM mutations and digenic inheritance.

    Zhang H, Hu Y, Seymen F, Koruyucu M, Kasimoglu Y, Wang SK, Wright JT, Havel MW, Zhang C, Kim JW, Simmer JP, Hu JC.

    Mol Genet Genomic Med. 2019 Oct;7(10):e00928. doi: 10.1002/mgg3.928. Epub 2019 Sep 2.

    PubMed [citation]
    PMID:
    31478359
    PMCID:
    PMC6785452

    Details of each submission

    From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV004223865.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    11not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Jan 26, 2024