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GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 13, 2012
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:
RCV000137832.6

Allele description [Variation Report for GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1]

GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1

Genes:
  • LOC130064687:ATAC-STARR-seq lymphoblastoid active region 14792 [Gene]
  • LOC130064690:ATAC-STARR-seq lymphoblastoid active region 14794 [Gene]
  • LOC130064691:ATAC-STARR-seq lymphoblastoid active region 14795 [Gene]
  • LOC130064692:ATAC-STARR-seq lymphoblastoid active region 14796 [Gene]
  • LOC130064698:ATAC-STARR-seq lymphoblastoid active region 14797 [Gene]
  • LOC130064700:ATAC-STARR-seq lymphoblastoid active region 14799 [Gene]
  • LOC130064709:ATAC-STARR-seq lymphoblastoid active region 14802 [Gene]
  • LOC130064711:ATAC-STARR-seq lymphoblastoid active region 14803 [Gene]
  • LOC130064712:ATAC-STARR-seq lymphoblastoid active region 14807 [Gene]
  • LOC130064713:ATAC-STARR-seq lymphoblastoid active region 14808 [Gene]
  • LOC130064714:ATAC-STARR-seq lymphoblastoid active region 14809 [Gene]
  • LOC130064717:ATAC-STARR-seq lymphoblastoid active region 14810 [Gene]
  • LOC130064720:ATAC-STARR-seq lymphoblastoid active region 14811 [Gene]
  • LOC130064722:ATAC-STARR-seq lymphoblastoid active region 14814 [Gene]
  • LOC130064723:ATAC-STARR-seq lymphoblastoid active region 14816 [Gene]
  • LOC130064724:ATAC-STARR-seq lymphoblastoid active region 14817 [Gene]
  • LOC129929038:ATAC-STARR-seq lymphoblastoid active region 14818 [Gene]
  • LOC129929039:ATAC-STARR-seq lymphoblastoid active region 14819 [Gene]
  • LOC129929041:ATAC-STARR-seq lymphoblastoid active region 14820 [Gene]
  • LOC130064726:ATAC-STARR-seq lymphoblastoid active region 14821 [Gene]
  • LOC130064727:ATAC-STARR-seq lymphoblastoid active region 14822 [Gene]
  • LOC130064729:ATAC-STARR-seq lymphoblastoid active region 14823 [Gene]
  • LOC130064731:ATAC-STARR-seq lymphoblastoid active region 14824 [Gene]
  • LOC130064735:ATAC-STARR-seq lymphoblastoid active region 14826 [Gene]
  • LOC130064736:ATAC-STARR-seq lymphoblastoid active region 14827 [Gene]
  • LOC130064737:ATAC-STARR-seq lymphoblastoid active region 14828 [Gene]
  • LOC130064738:ATAC-STARR-seq lymphoblastoid active region 14829 [Gene]
  • LOC130064740:ATAC-STARR-seq lymphoblastoid active region 14830 [Gene]
  • LOC130064742:ATAC-STARR-seq lymphoblastoid active region 14831 [Gene]
  • LOC130064744:ATAC-STARR-seq lymphoblastoid active region 14832 [Gene]
  • LOC130064745:ATAC-STARR-seq lymphoblastoid active region 14833 [Gene]
  • LOC130064748:ATAC-STARR-seq lymphoblastoid active region 14834 [Gene]
  • LOC130064749:ATAC-STARR-seq lymphoblastoid active region 14835 [Gene]
  • LOC130064750:ATAC-STARR-seq lymphoblastoid active region 14836 [Gene]
  • LOC130064752:ATAC-STARR-seq lymphoblastoid active region 14837 [Gene]
  • LOC130064756:ATAC-STARR-seq lymphoblastoid active region 14838 [Gene]
  • LOC130064757:ATAC-STARR-seq lymphoblastoid active region 14841 [Gene]
  • LOC130064759:ATAC-STARR-seq lymphoblastoid active region 14842 [Gene]
  • LOC130064761:ATAC-STARR-seq lymphoblastoid active region 14843 [Gene]
  • LOC130064762:ATAC-STARR-seq lymphoblastoid active region 14844 [Gene]
  • LOC130064763:ATAC-STARR-seq lymphoblastoid active region 14845 [Gene]
  • LOC130064771:ATAC-STARR-seq lymphoblastoid active region 14846 [Gene]
  • LOC130064774:ATAC-STARR-seq lymphoblastoid active region 14847 [Gene]
  • LOC130064782:ATAC-STARR-seq lymphoblastoid active region 14849 [Gene]
  • LOC130064783:ATAC-STARR-seq lymphoblastoid active region 14850 [Gene]
  • LOC130064688:ATAC-STARR-seq lymphoblastoid silent region 10762 [Gene]
  • LOC130064689:ATAC-STARR-seq lymphoblastoid silent region 10763 [Gene]
  • LOC130064693:ATAC-STARR-seq lymphoblastoid silent region 10764 [Gene]
  • LOC130064694:ATAC-STARR-seq lymphoblastoid silent region 10765 [Gene]
  • LOC130064695:ATAC-STARR-seq lymphoblastoid silent region 10768 [Gene]
  • LOC130064696:ATAC-STARR-seq lymphoblastoid silent region 10769 [Gene]
  • LOC130064697:ATAC-STARR-seq lymphoblastoid silent region 10770 [Gene]
  • LOC130064699:ATAC-STARR-seq lymphoblastoid silent region 10771 [Gene]
  • LOC130064701:ATAC-STARR-seq lymphoblastoid silent region 10772 [Gene]
  • LOC130064702:ATAC-STARR-seq lymphoblastoid silent region 10773 [Gene]
  • LOC130064703:ATAC-STARR-seq lymphoblastoid silent region 10774 [Gene]
  • LOC130064704:ATAC-STARR-seq lymphoblastoid silent region 10775 [Gene]
  • LOC130064705:ATAC-STARR-seq lymphoblastoid silent region 10776 [Gene]
  • LOC130064706:ATAC-STARR-seq lymphoblastoid silent region 10778 [Gene]
  • LOC130064707:ATAC-STARR-seq lymphoblastoid silent region 10779 [Gene]
  • LOC130064708:ATAC-STARR-seq lymphoblastoid silent region 10780 [Gene]
  • LOC130064710:ATAC-STARR-seq lymphoblastoid silent region 10783 [Gene]
  • LOC130064715:ATAC-STARR-seq lymphoblastoid silent region 10786 [Gene]
  • LOC130064716:ATAC-STARR-seq lymphoblastoid silent region 10787 [Gene]
  • LOC130064718:ATAC-STARR-seq lymphoblastoid silent region 10790 [Gene]
  • LOC130064719:ATAC-STARR-seq lymphoblastoid silent region 10791 [Gene]
  • LOC130064721:ATAC-STARR-seq lymphoblastoid silent region 10792 [Gene]
  • LOC129929037:ATAC-STARR-seq lymphoblastoid silent region 10794 [Gene]
  • LOC129664478:ATAC-STARR-seq lymphoblastoid silent region 10795 [Gene]
  • LOC129929040:ATAC-STARR-seq lymphoblastoid silent region 10796 [Gene]
  • LOC129929042:ATAC-STARR-seq lymphoblastoid silent region 10797 [Gene]
  • LOC130064725:ATAC-STARR-seq lymphoblastoid silent region 10798 [Gene]
  • LOC130064728:ATAC-STARR-seq lymphoblastoid silent region 10799 [Gene]
  • LOC130064730:ATAC-STARR-seq lymphoblastoid silent region 10800 [Gene]
  • LOC130064732:ATAC-STARR-seq lymphoblastoid silent region 10801 [Gene]
  • LOC130064733:ATAC-STARR-seq lymphoblastoid silent region 10802 [Gene]
  • LOC130064734:ATAC-STARR-seq lymphoblastoid silent region 10803 [Gene]
  • LOC130064739:ATAC-STARR-seq lymphoblastoid silent region 10804 [Gene]
  • LOC130064741:ATAC-STARR-seq lymphoblastoid silent region 10805 [Gene]
  • LOC130064743:ATAC-STARR-seq lymphoblastoid silent region 10806 [Gene]
  • LOC130064746:ATAC-STARR-seq lymphoblastoid silent region 10807 [Gene]
  • LOC130064747:ATAC-STARR-seq lymphoblastoid silent region 10808 [Gene]
  • LOC130064751:ATAC-STARR-seq lymphoblastoid silent region 10809 [Gene]
  • LOC130064753:ATAC-STARR-seq lymphoblastoid silent region 10810 [Gene]
  • LOC130064754:ATAC-STARR-seq lymphoblastoid silent region 10811 [Gene]
  • LOC130064755:ATAC-STARR-seq lymphoblastoid silent region 10812 [Gene]
  • LOC130064758:ATAC-STARR-seq lymphoblastoid silent region 10813 [Gene]
  • LOC130064760:ATAC-STARR-seq lymphoblastoid silent region 10814 [Gene]
  • LOC130064764:ATAC-STARR-seq lymphoblastoid silent region 10815 [Gene]
  • LOC130064765:ATAC-STARR-seq lymphoblastoid silent region 10816 [Gene]
  • LOC130064766:ATAC-STARR-seq lymphoblastoid silent region 10818 [Gene]
  • LOC130064767:ATAC-STARR-seq lymphoblastoid silent region 10819 [Gene]
  • LOC130064768:ATAC-STARR-seq lymphoblastoid silent region 10820 [Gene]
  • LOC130064769:ATAC-STARR-seq lymphoblastoid silent region 10821 [Gene]
  • LOC130064770:ATAC-STARR-seq lymphoblastoid silent region 10822 [Gene]
  • LOC130064772:ATAC-STARR-seq lymphoblastoid silent region 10823 [Gene]
  • LOC130064773:ATAC-STARR-seq lymphoblastoid silent region 10824 [Gene]
  • LOC130064775:ATAC-STARR-seq lymphoblastoid silent region 10825 [Gene]
  • LOC130064776:ATAC-STARR-seq lymphoblastoid silent region 10826 [Gene]
  • LOC130064777:ATAC-STARR-seq lymphoblastoid silent region 10827 [Gene]
  • LOC130064778:ATAC-STARR-seq lymphoblastoid silent region 10828 [Gene]
  • LOC130064779:ATAC-STARR-seq lymphoblastoid silent region 10829 [Gene]
  • LOC130064780:ATAC-STARR-seq lymphoblastoid silent region 10830 [Gene]
  • LOC130064781:ATAC-STARR-seq lymphoblastoid silent region 10831 [Gene]
  • LOC126862914:BRD4-independent group 4 enhancer GRCh37_chr19:46662347-46663546 [Gene]
  • LOC126862915:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:46732347-46733546 [Gene]
  • LOC126862917:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:47233845-47235044 [Gene]
  • LOC129456125:CRISPR/Cas9-targeted silencer 7 [Gene]
  • DACT3-AS1:DACT3 antisense RNA 1 [Gene - HGNC]
  • DM1-AS:DM1 locus antisense RNA [Gene - HGNC]
  • DMWD:DM1 locus, WD repeat containing [Gene - OMIM - HGNC]
  • DMPK:DM1 protein kinase [Gene - OMIM - HGNC]
  • EML2:EMAP like 2 [Gene - OMIM - HGNC]
  • EML2-AS1:EML2 antisense RNA 1 [Gene - HGNC]
  • ERCC1:ERCC excision repair 1, endonuclease non-catalytic subunit [Gene - OMIM - HGNC]
  • FBXO46:F-box protein 46 [Gene - OMIM - HGNC]
  • FOSB:FosB proto-oncogene, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • GNG8:G protein subunit gamma 8 [Gene - HGNC]
  • GPR4:G protein-coupled receptor 4 [Gene - OMIM - HGNC]
  • LOC111365212:HNF1 motif-containing MPRA enhancer 100 [Gene]
  • LOC111413034:HNF4 motif-containing MPRA enhancer 173 [Gene]
  • IGFL1:IGF like family member 1 [Gene - OMIM - HGNC]
  • IGFL2:IGF like family member 2 [Gene - OMIM - HGNC]
  • IGFL3:IGF like family member 3 [Gene - OMIM - HGNC]
  • IGFL4:IGF like family member 4 [Gene - OMIM - HGNC]
  • IGFL2-AS1:IGFL2 antisense RNA 1 [Gene - HGNC]
  • LOC126862913:MED14-independent group 3 enhancer GRCh37_chr19:46313062-46314261 [Gene]
  • LOC126862918:MED14-independent group 3 enhancer GRCh37_chr19:47287225-47288424 [Gene]
  • LOC129391125:MPRA-validated peak3520 silencer [Gene]
  • LOC129391126:MPRA-validated peak3522 silencer [Gene]
  • LOC129391127:MPRA-validated peak3525 silencer [Gene]
  • LOC129391128:MPRA-validated peak3526 silencer [Gene]
  • MYPOP:Myb related transcription factor, partner of profilin [Gene - OMIM - HGNC]
  • NOVA2:NOVA alternative splicing regulator 2 [Gene - OMIM - HGNC]
  • LOC126862916:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:46765735-46766934 [Gene]
  • PNMA8A:PNMA family member 8A [Gene - HGNC]
  • PNMA8B:PNMA family member 8B [Gene - OMIM - HGNC]
  • PNMA8C:PNMA family member 8C [Gene - HGNC]
  • PPP5D1:PPP5 tetratricopeptide repeat domain containing 1 [Gene - HGNC]
  • POLR1G:RNA polymerase I subunit G [Gene - OMIM - HGNC]
  • SIX5:SIX homeobox 5 [Gene - OMIM - HGNC]
  • LOC112552161:Sharpr-MPRA regulatory region 10795 [Gene]
  • LOC121627881:Sharpr-MPRA regulatory region 13463 [Gene]
  • LOC112552159:Sharpr-MPRA regulatory region 13779 [Gene]
  • LOC125371533:Sharpr-MPRA regulatory region 13926 [Gene]
  • LOC125371535:Sharpr-MPRA regulatory region 2120 [Gene]
  • LOC125371536:Sharpr-MPRA regulatory region 2893 [Gene]
  • LOC121627880:Sharpr-MPRA regulatory region 4040 [Gene]
  • LOC112552160:Sharpr-MPRA regulatory region 4903 [Gene]
  • LOC125371532:Sharpr-MPRA regulatory region 6016 [Gene]
  • LOC125371534:Sharpr-MPRA regulatory region 8129 [Gene]
  • LOC112552162:Sharpr-MPRA regulatory region 93 [Gene]
  • LOC125371531:Sharpr-MPRA regulatory regions 3721 and 14243 [Gene]
  • CALM3:calmodulin 3 [Gene - OMIM - HGNC]
  • CCDC61:coiled-coil domain containing 61 [Gene - OMIM - HGNC]
  • CCDC8:coiled-coil domain containing 8 [Gene - OMIM - HGNC]
  • DACT3:dishevelled binding antagonist of beta catenin 3 [Gene - OMIM - HGNC]
  • LOC109461477:dystrophia myotonica protein kinase repeat instability region [Gene]
  • FOXA3:forkhead box A3 [Gene - OMIM - HGNC]
  • FKRP:fukutin related protein [Gene - OMIM - HGNC]
  • GIPR:gastric inhibitory polypeptide receptor [Gene - OMIM - HGNC]
  • QPCTL:glutaminyl-peptide cyclotransferase like [Gene - HGNC]
  • HIF3A:hypoxia inducible factor 3 subunit alpha [Gene - OMIM - HGNC]
  • IRF2BP1:interferon regulatory factor 2 binding protein 1 [Gene - OMIM - HGNC]
  • MEIOSIN:meiosis initiator [Gene - HGNC]
  • MIR320E:microRNA 320e [Gene - HGNC]
  • MIR330:microRNA 330 [Gene - HGNC]
  • MIR6088:microRNA 6088 [Gene - HGNC]
  • MIR642A:microRNA 642a [Gene - HGNC]
  • MIR642B:microRNA 642b [Gene - HGNC]
  • MIR769:microRNA 769 [Gene - HGNC]
  • NANOS2:nanos C2HC-type zinc finger 2 [Gene - OMIM - HGNC]
  • LOC107075317:origin of replication in DMPK trinucleotide repeat region [Gene]
  • OPA3:outer mitochondrial membrane lipid metabolism regulator OPA3 [Gene - OMIM - HGNC]
  • PGLYRP1:peptidoglycan recognition protein 1 [Gene - OMIM - HGNC]
  • PTGIR:prostaglandin I2 receptor [Gene - OMIM - HGNC]
  • PRKD2:protein kinase D2 [Gene - OMIM - HGNC]
  • PPP1R13L:protein phosphatase 1 regulatory subunit 13 like [Gene - OMIM - HGNC]
  • PPP5C:protein phosphatase 5 catalytic subunit [Gene - OMIM - HGNC]
  • PPM1N:protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) [Gene - HGNC]
  • RSPH6A:radial spoke head 6 homolog A [Gene - OMIM - HGNC]
  • RTN2:reticulon 2 [Gene - OMIM - HGNC]
  • SNAR-E:small NF90 (ILF3) associated RNA E [Gene - HGNC]
  • SNRPD2:small nuclear ribonucleoprotein D2 polypeptide [Gene - OMIM - HGNC]
  • SLC1A5:solute carrier family 1 member 5 [Gene - OMIM - HGNC]
  • STRN4:striatin 4 [Gene - OMIM - HGNC]
  • SYMPK:symplekin scaffold protein [Gene - OMIM - HGNC]
  • TRU-TCA1-1:tRNA-SeC (anticodon TCA) 1-1 [Gene - OMIM - HGNC]
  • LOC105372421:uncharacterized LOC105372421 [Gene]
  • LOC105372424:uncharacterized LOC105372424 [Gene]
  • LOC93429:uncharacterized LOC93429 [Gene]
  • VASP:vasodilator stimulated phosphoprotein [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1
HGVS:
  • NC_000019.10:g.(?_45387389)_(46831000_?)del
  • NC_000019.8:g.(?_50582487)_(52026097_?)del
  • NC_000019.9:g.(?_45890647)_(47334257_?)del
Links:
dbVar: nssv1495768; dbVar: nsv869015
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
SCV000178084ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Jan 13, 2012) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 1, SCV000178084.4

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

Last Updated: May 7, 2024