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GRCh37/hg19 4q35.2(chr4:188339897-190957460)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
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:
RCV004442752.1

Allele description [Variation Report for GRCh37/hg19 4q35.2(chr4:188339897-190957460)x1]

GRCh37/hg19 4q35.2(chr4:188339897-190957460)x1

Genes:
FRG1:FSHD region gene 1 [Gene - OMIM - HGNC]
FRG2:FSHD region gene 2 [Gene - OMIM - HGNC]
ZFP42:ZFP42 zinc finger protein [Gene - OMIM - HGNC]
TRIML1:tripartite motif family like 1 [Gene - HGNC]
TRIML2:tripartite motif family like 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
4q35.2
Genomic location:
Chr4: 188339897 - 190957460 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4q35.2(chr4:188339897-190957460)x1
HGVS:

    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
    SCV004933990Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Uncertain significanceunknownclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    Asianunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital, SCV004933990.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1Asiannot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot provideddiscoverynot providednot providednot providednot provided

    Last Updated: May 7, 2024