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GRCh37/hg19 6p21.1(chr6:44861182-46170500)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:
RCV004442796.1

Allele description [Variation Report for GRCh37/hg19 6p21.1(chr6:44861182-46170500)x1]

GRCh37/hg19 6p21.1(chr6:44861182-46170500)x1

Genes:
RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
SUPT3H:SPT3 homolog, SAGA and STAGA complex component [Gene - OMIM - HGNC]
CLIC5:chloride intracellular channel 5 [Gene - OMIM - HGNC]
ENPP4:ectonucleotide pyrophosphatase/phosphodiesterase 4 [Gene - OMIM - HGNC]
ENPP5:ectonucleotide pyrophosphatase/phosphodiesterase family member 5 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6p21.1
Genomic location:
Chr6: 44861182 - 46170500 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6p21.1(chr6:44861182-46170500)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
    SCV004934034Prenatal 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, SCV004934034.1

    #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