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GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2010
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:
RCV000134482.3

Allele description [Variation Report for GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1]

GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1

Genes:
  • 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]
  • LOC130063172:ATAC-STARR-seq lymphoblastoid active region 13750 [Gene]
  • LOC130063175:ATAC-STARR-seq lymphoblastoid active region 13751 [Gene]
  • LOC130063178:ATAC-STARR-seq lymphoblastoid active region 13752 [Gene]
  • LOC130063188:ATAC-STARR-seq lymphoblastoid active region 13753 [Gene]
  • LOC130063189:ATAC-STARR-seq lymphoblastoid active region 13754 [Gene]
  • LOC130063190:ATAC-STARR-seq lymphoblastoid active region 13755 [Gene]
  • LOC130063191:ATAC-STARR-seq lymphoblastoid active region 13757 [Gene]
  • LOC130063192:ATAC-STARR-seq lymphoblastoid active region 13758 [Gene]
  • LOC130063195:ATAC-STARR-seq lymphoblastoid active region 13759 [Gene]
  • LOC130063196:ATAC-STARR-seq lymphoblastoid active region 13760 [Gene]
  • LOC130063197:ATAC-STARR-seq lymphoblastoid active region 13761 [Gene]
  • LOC130063198:ATAC-STARR-seq lymphoblastoid active region 13762 [Gene]
  • LOC130063199:ATAC-STARR-seq lymphoblastoid active region 13763 [Gene]
  • LOC130063200:ATAC-STARR-seq lymphoblastoid active region 13764 [Gene]
  • LOC130063201:ATAC-STARR-seq lymphoblastoid active region 13766 [Gene]
  • LOC130063205:ATAC-STARR-seq lymphoblastoid active region 13767 [Gene]
  • LOC130063207:ATAC-STARR-seq lymphoblastoid active region 13771 [Gene]
  • LOC130063208:ATAC-STARR-seq lymphoblastoid active region 13772 [Gene]
  • LOC130063209:ATAC-STARR-seq lymphoblastoid active region 13773 [Gene]
  • LOC130063212:ATAC-STARR-seq lymphoblastoid active region 13774 [Gene]
  • LOC130063213:ATAC-STARR-seq lymphoblastoid active region 13775 [Gene]
  • LOC130063214:ATAC-STARR-seq lymphoblastoid active region 13776 [Gene]
  • LOC130063222:ATAC-STARR-seq lymphoblastoid active region 13778 [Gene]
  • LOC130063228:ATAC-STARR-seq lymphoblastoid active region 13783 [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]
  • LOC130063173:ATAC-STARR-seq lymphoblastoid silent region 9868 [Gene]
  • LOC130063174:ATAC-STARR-seq lymphoblastoid silent region 9869 [Gene]
  • LOC130063176:ATAC-STARR-seq lymphoblastoid silent region 9870 [Gene]
  • LOC130063177:ATAC-STARR-seq lymphoblastoid silent region 9871 [Gene]
  • LOC130063179:ATAC-STARR-seq lymphoblastoid silent region 9872 [Gene]
  • LOC130063180:ATAC-STARR-seq lymphoblastoid silent region 9873 [Gene]
  • LOC130063181:ATAC-STARR-seq lymphoblastoid silent region 9874 [Gene]
  • LOC130063182:ATAC-STARR-seq lymphoblastoid silent region 9875 [Gene]
  • LOC130063183:ATAC-STARR-seq lymphoblastoid silent region 9876 [Gene]
  • LOC130063184:ATAC-STARR-seq lymphoblastoid silent region 9877 [Gene]
  • LOC130063185:ATAC-STARR-seq lymphoblastoid silent region 9878 [Gene]
  • LOC130063186:ATAC-STARR-seq lymphoblastoid silent region 9879 [Gene]
  • LOC130063187:ATAC-STARR-seq lymphoblastoid silent region 9880 [Gene]
  • LOC130063193:ATAC-STARR-seq lymphoblastoid silent region 9881 [Gene]
  • LOC130063194:ATAC-STARR-seq lymphoblastoid silent region 9882 [Gene]
  • LOC130063202:ATAC-STARR-seq lymphoblastoid silent region 9883 [Gene]
  • LOC130063203:ATAC-STARR-seq lymphoblastoid silent region 9884 [Gene]
  • LOC130063204:ATAC-STARR-seq lymphoblastoid silent region 9885 [Gene]
  • LOC130063206:ATAC-STARR-seq lymphoblastoid silent region 9886 [Gene]
  • LOC130063210:ATAC-STARR-seq lymphoblastoid silent region 9890 [Gene]
  • LOC130063211:ATAC-STARR-seq lymphoblastoid silent region 9891 [Gene]
  • LOC130063215:ATAC-STARR-seq lymphoblastoid silent region 9892 [Gene]
  • LOC130063216:ATAC-STARR-seq lymphoblastoid silent region 9893 [Gene]
  • LOC130063217:ATAC-STARR-seq lymphoblastoid silent region 9894 [Gene]
  • LOC130063218:ATAC-STARR-seq lymphoblastoid silent region 9895 [Gene]
  • LOC130063219:ATAC-STARR-seq lymphoblastoid silent region 9896 [Gene]
  • LOC130063220:ATAC-STARR-seq lymphoblastoid silent region 9897 [Gene]
  • LOC130063221:ATAC-STARR-seq lymphoblastoid silent region 9898 [Gene]
  • LOC130063223:ATAC-STARR-seq lymphoblastoid silent region 9900 [Gene]
  • LOC130063224:ATAC-STARR-seq lymphoblastoid silent region 9901 [Gene]
  • LOC130063225:ATAC-STARR-seq lymphoblastoid silent region 9902 [Gene]
  • LOC130063226:ATAC-STARR-seq lymphoblastoid silent region 9903 [Gene]
  • LOC130063227:ATAC-STARR-seq lymphoblastoid silent region 9904 [Gene]
  • LOC130063229:ATAC-STARR-seq lymphoblastoid silent region 9906 [Gene]
  • LOC130063230:ATAC-STARR-seq lymphoblastoid silent region 9907 [Gene]
  • ATCAY:ATCAY kinesin light chain interacting caytaxin [Gene - OMIM - HGNC]
  • LOC126862841:BRD4-independent group 4 enhancer GRCh37_chr19:4703720-4704919 [Gene]
  • CACTIN-AS1:CACTIN antisense RNA 1 [Gene - HGNC]
  • LOC126862842:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:4713085-4714284 [Gene]
  • DPP9-AS1:DPP9 antisense RNA 1 [Gene - HGNC]
  • EBI3:Epstein-Barr virus induced 3 [Gene - OMIM - HGNC]
  • GIPC3:GIPC PDZ domain containing family member 3 [Gene - OMIM - HGNC]
  • HDGFL2:HDGF like 2 [Gene - OMIM - HGNC]
  • MIR7-3HG:MIR7-3 host gene [Gene - HGNC]
  • MPND:MPN domain containing [Gene - HGNC]
  • 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]
  • LOC129391034:MPRA-validated peak3265 silencer [Gene]
  • LOC129391035:MPRA-validated peak3267 silencer [Gene]
  • LOC129391036:MPRA-validated peak3273 silencer [Gene]
  • LOC129391037:MPRA-validated peak3276 silencer [Gene]
  • LOC129391038:MPRA-validated peak3284 silencer [Gene]
  • LOC129391039:MPRA-validated peak3287 silencer [Gene]
  • LOC126862840:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:4694063-4695262 [Gene]
  • LOC126862843:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:4812531-4813730 [Gene]
  • SH3GL1:SH3 domain containing GRB2 like 1, endophilin A2 [Gene - OMIM - HGNC]
  • LOC112552148:Sharpr-MPRA regulatory region 10046 [Gene]
  • LOC125371451:Sharpr-MPRA regulatory region 10296 [Gene]
  • LOC125371455:Sharpr-MPRA regulatory region 11650 [Gene]
  • LOC113939970:Sharpr-MPRA regulatory region 13254 [Gene]
  • LOC125371452:Sharpr-MPRA regulatory region 13615 [Gene]
  • LOC113939971:Sharpr-MPRA regulatory region 15136 [Gene]
  • LOC125371453:Sharpr-MPRA regulatory region 15218 [Gene]
  • LOC121852973:Sharpr-MPRA regulatory region 208 [Gene]
  • LOC121627849:Sharpr-MPRA regulatory region 2607 [Gene]
  • LOC112543481:Sharpr-MPRA regulatory region 323 [Gene]
  • LOC121852974:Sharpr-MPRA regulatory region 3644 [Gene]
  • LOC121627851:Sharpr-MPRA regulatory region 4167 [Gene]
  • LOC112543482:Sharpr-MPRA regulatory region 5698 [Gene]
  • LOC112543490:Sharpr-MPRA regulatory region 6873 [Gene]
  • LOC121627850:Sharpr-MPRA regulatory region 7851 [Gene]
  • LOC121852972:Sharpr-MPRA regulatory region 8051 [Gene]
  • LOC125371457:Sharpr-MPRA regulatory region 9621 [Gene]
  • LOC111828491:Sharpr-MPRA regulatory regions 262 and 14493 [Gene]
  • SHD:Src homology 2 domain containing transforming protein D [Gene - OMIM - HGNC]
  • TICAM1:TIR domain containing adaptor molecule 1 [Gene - OMIM - HGNC]
  • TNFAIP8L1:TNF alpha induced protein 8 like 1 [Gene - OMIM - HGNC]
  • UBXN6:UBX domain protein 6 [Gene - OMIM - HGNC]
  • YJU2:YJU2 splicing factor homolog [Gene - HGNC]
  • APBA3:amyloid beta precursor protein binding family A member 3 [Gene - OMIM - HGNC]
  • ANKRD24:ankyrin repeat domain 24 [Gene - OMIM - HGNC]
  • CREB3L3:cAMP responsive element binding protein 3 like 3 [Gene - OMIM - HGNC]
  • CACTIN:cactin, spliceosome C complex subunit [Gene - OMIM - HGNC]
  • CHAF1A:chromatin assembly factor 1 subunit A [Gene - OMIM - HGNC]
  • DAPK3:death associated protein kinase 3 [Gene - OMIM - HGNC]
  • DOHH:deoxyhypusine hydroxylase [Gene - OMIM - HGNC]
  • DPP9:dipeptidyl peptidase 9 [Gene - OMIM - HGNC]
  • EEF2:eukaryotic translation elongation factor 2 [Gene - OMIM - HGNC]
  • FEM1A:fem-1 homolog A [Gene - OMIM - HGNC]
  • FSD1:fibronectin type III and SPRY domain containing 1 [Gene - OMIM - HGNC]
  • FZR1:fizzy and cell division cycle 20 related 1 [Gene - OMIM - HGNC]
  • HMG20B:high mobility group 20B [Gene - OMIM - HGNC]
  • LRG1:leucine rich alpha-2-glycoprotein 1 [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]
  • MIR4746:microRNA 4746 [Gene - HGNC]
  • MIR637:microRNA 637 [Gene - HGNC]
  • MIR7-3:microRNA 7-3 [Gene - HGNC]
  • MRPL54:mitochondrial ribosomal protein L54 [Gene - OMIM - HGNC]
  • MAP2K2:mitogen-activated protein kinase kinase 2 [Gene - OMIM - HGNC]
  • MYDGF:myeloid derived growth factor [Gene - OMIM - HGNC]
  • NMRK2:nicotinamide riboside kinase 2 [Gene - OMIM - HGNC]
  • NFIC:nuclear factor I C [Gene - OMIM - HGNC]
  • PLIN4:perilipin 4 [Gene - OMIM - HGNC]
  • PLIN5:perilipin 5 [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]
  • SEMA6B:semaphorin 6B [Gene - OMIM - HGNC]
  • STAP2:signal transducing adaptor family member 2 [Gene - OMIM - HGNC]
  • SIRT6:sirtuin 6 [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]
  • TRG-TCC1-1:tRNA-Gly (anticodon TCC) 1-1 [Gene - OMIM - HGNC]
  • TRV-CAC3-1:tRNA-Val (anticodon CAC) 3-1 [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]
  • TMIGD2:transmembrane and immunoglobulin domain containing 2 [Gene - OMIM - HGNC]
  • ZFR2:zinc finger RNA binding protein 2 [Gene - OMIM - HGNC]
  • ZBTB7A:zinc finger and BTB domain containing 7A [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1
HGVS:
  • NC_000019.10:g.(?_3338024)_(4833139_?)del
  • NC_000019.8:g.(?_3289022)_(4784151_?)del
  • NC_000019.9:g.(?_3338022)_(4833151_?)del
Links:
dbVar: nssv583648; dbVar: nsv497563
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
SCV000174037GeneDx
no assertion criteria provided
Pathogenic
(Nov 30, 2010) 		not providedclinical testing

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000174037.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023