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GRCh37/hg19 12p11.22(chr12:29494633-29628021)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
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:
RCV000449382.4

Allele description [Variation Report for GRCh37/hg19 12p11.22(chr12:29494633-29628021)x3]

GRCh37/hg19 12p11.22(chr12:29494633-29628021)x3

Genes:
ERGIC2:ERGIC and golgi 2 [Gene - OMIM - HGNC]
OVCH1:ovochymase 1 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12p11.22
Genomic location:
Chr12: 29494633 - 29628021 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12p11.22(chr12:29494633-29628021)x3
HGVS:
    Links:
    dbVar: nssv13656512; dbVar: nsv2774355
    Observations:
    1

    Condition(s)

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

    Recent activity

    Clear Turn Off Turn On
    • Cleft Lip
      Cleft Lip
      Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of th...<br/>Year introduced: 1965
      MeSH
    • Sofosbuvir
      Sofosbuvir
      A uridine monophosphate analog inhibitor of HEPATITIS C VIRUS (HCV) polymerase NS5B that is used as an ANTIVIRAL AGENT in the treatment of CHRONIC HEPATITIS C....<br/>Year introduced: 2016 (2010)
      MeSH
    • samd11 sterile alpha motif domain containing 11 [Danio rerio]
      samd11 sterile alpha motif domain containing 11 [Danio rerio]
      Gene ID:569122
      Gene

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000500299ISCA Site 6

    See additional submitters

    no assertion criteria provided
    		Uncertain significanceunknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

    Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

    Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

    PubMed [citation]
    PMID:
    20466091
    PMCID:
    PMC2869000

    Details of each submission

    From ISCA Site 6, SCV000500299.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: May 7, 2024