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GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
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:
RCV000053942.6

Allele description [Variation Report for GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1]

GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1

Genes:
  • LOC130063112:ATAC-STARR-seq lymphoblastoid active region 13722 [Gene]
  • LOC130063113:ATAC-STARR-seq lymphoblastoid active region 13723 [Gene]
  • LOC130063115:ATAC-STARR-seq lymphoblastoid active region 13724 [Gene]
  • LOC130063124:ATAC-STARR-seq lymphoblastoid active region 13727 [Gene]
  • LOC130063125:ATAC-STARR-seq lymphoblastoid active region 13728 [Gene]
  • LOC130063126:ATAC-STARR-seq lymphoblastoid active region 13729 [Gene]
  • LOC130063127:ATAC-STARR-seq lymphoblastoid active region 13730 [Gene]
  • LOC130063135:ATAC-STARR-seq lymphoblastoid active region 13732 [Gene]
  • LOC130063141:ATAC-STARR-seq lymphoblastoid active region 13733 [Gene]
  • LOC130063145:ATAC-STARR-seq lymphoblastoid active region 13735 [Gene]
  • LOC130063146:ATAC-STARR-seq lymphoblastoid active region 13736 [Gene]
  • LOC130063147:ATAC-STARR-seq lymphoblastoid active region 13737 [Gene]
  • LOC130063149:ATAC-STARR-seq lymphoblastoid active region 13738 [Gene]
  • LOC130063156:ATAC-STARR-seq lymphoblastoid active region 13740 [Gene]
  • LOC130063164:ATAC-STARR-seq lymphoblastoid active region 13742 [Gene]
  • LOC130063165:ATAC-STARR-seq lymphoblastoid active region 13743 [Gene]
  • LOC130063166:ATAC-STARR-seq lymphoblastoid active region 13744 [Gene]
  • LOC130063167:ATAC-STARR-seq lymphoblastoid active region 13745 [Gene]
  • LOC130063169:ATAC-STARR-seq lymphoblastoid active region 13746 [Gene]
  • LOC130063171:ATAC-STARR-seq lymphoblastoid active region 13748 [Gene]
  • LOC130063110:ATAC-STARR-seq lymphoblastoid silent region 9817 [Gene]
  • LOC130063111:ATAC-STARR-seq lymphoblastoid silent region 9818 [Gene]
  • LOC130063114:ATAC-STARR-seq lymphoblastoid silent region 9819 [Gene]
  • LOC130063116:ATAC-STARR-seq lymphoblastoid silent region 9820 [Gene]
  • LOC130063117:ATAC-STARR-seq lymphoblastoid silent region 9821 [Gene]
  • LOC130063118:ATAC-STARR-seq lymphoblastoid silent region 9822 [Gene]
  • LOC130063119:ATAC-STARR-seq lymphoblastoid silent region 9823 [Gene]
  • LOC130063120:ATAC-STARR-seq lymphoblastoid silent region 9824 [Gene]
  • LOC130063121:ATAC-STARR-seq lymphoblastoid silent region 9829 [Gene]
  • LOC130063122:ATAC-STARR-seq lymphoblastoid silent region 9830 [Gene]
  • LOC130063123:ATAC-STARR-seq lymphoblastoid silent region 9831 [Gene]
  • LOC130063128:ATAC-STARR-seq lymphoblastoid silent region 9832 [Gene]
  • LOC130063129:ATAC-STARR-seq lymphoblastoid silent region 9833 [Gene]
  • LOC130063130:ATAC-STARR-seq lymphoblastoid silent region 9834 [Gene]
  • LOC130063131:ATAC-STARR-seq lymphoblastoid silent region 9835 [Gene]
  • LOC130063132:ATAC-STARR-seq lymphoblastoid silent region 9836 [Gene]
  • LOC130063133:ATAC-STARR-seq lymphoblastoid silent region 9837 [Gene]
  • LOC130063134:ATAC-STARR-seq lymphoblastoid silent region 9838 [Gene]
  • LOC130063136:ATAC-STARR-seq lymphoblastoid silent region 9839 [Gene]
  • LOC130063137:ATAC-STARR-seq lymphoblastoid silent region 9840 [Gene]
  • LOC130063138:ATAC-STARR-seq lymphoblastoid silent region 9841 [Gene]
  • LOC130063139:ATAC-STARR-seq lymphoblastoid silent region 9842 [Gene]
  • LOC130063140:ATAC-STARR-seq lymphoblastoid silent region 9843 [Gene]
  • LOC130063142:ATAC-STARR-seq lymphoblastoid silent region 9844 [Gene]
  • LOC130063143:ATAC-STARR-seq lymphoblastoid silent region 9845 [Gene]
  • LOC130063144:ATAC-STARR-seq lymphoblastoid silent region 9846 [Gene]
  • LOC130063148:ATAC-STARR-seq lymphoblastoid silent region 9847 [Gene]
  • LOC130063150:ATAC-STARR-seq lymphoblastoid silent region 9848 [Gene]
  • LOC130063151:ATAC-STARR-seq lymphoblastoid silent region 9849 [Gene]
  • LOC130063152:ATAC-STARR-seq lymphoblastoid silent region 9850 [Gene]
  • LOC130063153:ATAC-STARR-seq lymphoblastoid silent region 9851 [Gene]
  • LOC130063154:ATAC-STARR-seq lymphoblastoid silent region 9852 [Gene]
  • LOC130063155:ATAC-STARR-seq lymphoblastoid silent region 9853 [Gene]
  • LOC130063157:ATAC-STARR-seq lymphoblastoid silent region 9854 [Gene]
  • LOC130063158:ATAC-STARR-seq lymphoblastoid silent region 9855 [Gene]
  • LOC130063159:ATAC-STARR-seq lymphoblastoid silent region 9856 [Gene]
  • LOC130063160:ATAC-STARR-seq lymphoblastoid silent region 9857 [Gene]
  • LOC130063161:ATAC-STARR-seq lymphoblastoid silent region 9859 [Gene]
  • LOC130063162:ATAC-STARR-seq lymphoblastoid silent region 9860 [Gene]
  • LOC130063163:ATAC-STARR-seq lymphoblastoid silent region 9861 [Gene]
  • LOC130063168:ATAC-STARR-seq lymphoblastoid silent region 9864 [Gene]
  • LOC130063170:ATAC-STARR-seq lymphoblastoid silent region 9865 [Gene]
  • ATCAY:ATCAY kinesin light chain interacting caytaxin [Gene - OMIM - HGNC]
  • CACTIN-AS1:CACTIN antisense RNA 1 [Gene - HGNC]
  • CELF5:CUGBP Elav-like family member 5 [Gene - OMIM - HGNC]
  • GNA11:G protein subunit alpha 11 [Gene - OMIM - HGNC]
  • GNA15:G protein subunit alpha 15 [Gene - OMIM - HGNC]
  • GIPC3:GIPC PDZ domain containing family member 3 [Gene - OMIM - HGNC]
  • GNA15-DT:GNA15 divergent transcript [Gene - HGNC]
  • LOC129391026:MPRA-validated peak3244 silencer [Gene]
  • LOC129391027:MPRA-validated peak3246 silencer [Gene]
  • LOC129391028:MPRA-validated peak3248 silencer [Gene]
  • LOC129391029:MPRA-validated peak3250 silencer [Gene]
  • LOC129391030:MPRA-validated peak3252 silencer [Gene]
  • LOC129391031:MPRA-validated peak3254 silencer [Gene]
  • LOC129391032:MPRA-validated peak3255 silencer [Gene]
  • LOC129391033:MPRA-validated peak3257 silencer [Gene]
  • LOC125371451:Sharpr-MPRA regulatory region 10296 [Gene]
  • LOC121627848:Sharpr-MPRA regulatory region 11171 [Gene]
  • LOC112543480:Sharpr-MPRA regulatory region 13242 [Gene]
  • LOC113939970:Sharpr-MPRA regulatory region 13254 [Gene]
  • LOC125371452:Sharpr-MPRA regulatory region 13615 [Gene]
  • LOC125371453:Sharpr-MPRA regulatory region 15218 [Gene]
  • LOC121852973:Sharpr-MPRA regulatory region 208 [Gene]
  • LOC112543481:Sharpr-MPRA regulatory region 323 [Gene]
  • LOC125371450:Sharpr-MPRA regulatory region 3290 [Gene]
  • LOC112543482:Sharpr-MPRA regulatory region 5698 [Gene]
  • LOC121852972:Sharpr-MPRA regulatory region 8051 [Gene]
  • TLE2:TLE family member 2, transcriptional corepressor [Gene - OMIM - HGNC]
  • TLE5:TLE family member 5, transcriptional modulator [Gene - OMIM - HGNC]
  • TLE6:TLE family member 6, subcortical maternal complex member [Gene - OMIM - HGNC]
  • APBA3:amyloid beta precursor protein binding family A member 3 [Gene - OMIM - HGNC]
  • CACTIN:cactin, spliceosome C complex subunit [Gene - OMIM - HGNC]
  • DAPK3:death associated protein kinase 3 [Gene - OMIM - HGNC]
  • DOHH:deoxyhypusine hydroxylase [Gene - OMIM - HGNC]
  • EEF2:eukaryotic translation elongation factor 2 [Gene - OMIM - HGNC]
  • FZR1:fizzy and cell division cycle 20 related 1 [Gene - OMIM - HGNC]
  • HMG20B:high mobility group 20B [Gene - OMIM - HGNC]
  • MFSD12:major facilitator superfamily domain containing 12 [Gene - OMIM - HGNC]
  • MATK:megakaryocyte-associated tyrosine kinase [Gene - OMIM - HGNC]
  • LOC128772422:melanoma risk locus-associated MPRA allelic enhancer 19:3540539 [Gene]
  • LOC128772423:melanoma risk locus-associated MPRA allelic enhancer 19:3542983 [Gene]
  • LOC128772424:melanoma risk locus-associated MPRA allelic enhancer 19:3550926 [Gene]
  • MIR637:microRNA 637 [Gene - HGNC]
  • MRPL54:mitochondrial ribosomal protein L54 [Gene - OMIM - HGNC]
  • NCLN:nicalin [Gene - OMIM - HGNC]
  • NMRK2:nicotinamide riboside kinase 2 [Gene - OMIM - HGNC]
  • NFIC:nuclear factor I C [Gene - OMIM - HGNC]
  • PIP5K1C:phosphatidylinositol-4-phosphate 5-kinase type 1 gamma [Gene - OMIM - HGNC]
  • PIAS4:protein inhibitor of activated STAT 4 [Gene - OMIM - HGNC]
  • RAX2:retina and anterior neural fold homeobox 2 [Gene - OMIM - HGNC]
  • LOC111721712:skeletal muscle cis-regulatory module in NFIC intron [Gene]
  • SMIM24:small integral membrane protein 24 [Gene - HGNC]
  • SMIM44:small integral membrane protein 44 [Gene - HGNC]
  • SNORD37:small nucleolar RNA, C/D box 37 [Gene - HGNC]
  • S1PR4:sphingosine-1-phosphate receptor 4 [Gene - OMIM - HGNC]
  • TEKTIP1:tektin bundle interacting protein 1 [Gene - HGNC]
  • TBXA2R:thromboxane A2 receptor [Gene - OMIM - HGNC]
  • TJP3:tight junction protein 3 [Gene - OMIM - HGNC]
  • LOC105372244:uncharacterized LOC105372244 [Gene]
  • ZFR2:zinc finger RNA binding protein 2 [Gene - OMIM - HGNC]
  • ZBTB7A:zinc finger and BTB domain containing 7A [Gene - OMIM - HGNC]
  • ZNF77:zinc finger protein 77 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1
HGVS:
  • NC_000019.10:g.(?_2926238)_(4051635_?)del
  • NC_000019.8:g.(?_2877236)_(4002633_?)del
  • NC_000019.9:g.(?_2926236)_(4051633_?)del
Links:
dbVar: nssv577673; dbVar: nsv532610
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
SCV000081305GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000081305.4

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

Last Updated: Sep 1, 2024