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GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 18, 2014
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:
RCV000142067.6

Allele description [Variation Report for GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3]

GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3

Genes:
  • LOC130065087:ATAC-STARR-seq lymphoblastoid active region 15075 [Gene]
  • LOC130065088:ATAC-STARR-seq lymphoblastoid active region 15076 [Gene]
  • LOC130065089:ATAC-STARR-seq lymphoblastoid active region 15077 [Gene]
  • LOC130065091:ATAC-STARR-seq lymphoblastoid active region 15078 [Gene]
  • LOC130065092:ATAC-STARR-seq lymphoblastoid active region 15079 [Gene]
  • LOC130065093:ATAC-STARR-seq lymphoblastoid active region 15080 [Gene]
  • LOC130065094:ATAC-STARR-seq lymphoblastoid active region 15081 [Gene]
  • LOC130065095:ATAC-STARR-seq lymphoblastoid active region 15082 [Gene]
  • LOC130065096:ATAC-STARR-seq lymphoblastoid active region 15083 [Gene]
  • LOC130065097:ATAC-STARR-seq lymphoblastoid active region 15084 [Gene]
  • LOC130065098:ATAC-STARR-seq lymphoblastoid active region 15086 [Gene]
  • LOC130065099:ATAC-STARR-seq lymphoblastoid active region 15087 [Gene]
  • LOC130065100:ATAC-STARR-seq lymphoblastoid active region 15088 [Gene]
  • LOC130065101:ATAC-STARR-seq lymphoblastoid active region 15089 [Gene]
  • LOC130065103:ATAC-STARR-seq lymphoblastoid active region 15090 [Gene]
  • LOC130065108:ATAC-STARR-seq lymphoblastoid active region 15091 [Gene]
  • LOC130065110:ATAC-STARR-seq lymphoblastoid active region 15093 [Gene]
  • LOC130065111:ATAC-STARR-seq lymphoblastoid active region 15094 [Gene]
  • LOC130065114:ATAC-STARR-seq lymphoblastoid active region 15095 [Gene]
  • LOC130065115:ATAC-STARR-seq lymphoblastoid active region 15096 [Gene]
  • LOC130065122:ATAC-STARR-seq lymphoblastoid active region 15097 [Gene]
  • LOC130065129:ATAC-STARR-seq lymphoblastoid active region 15098 [Gene]
  • LOC130065130:ATAC-STARR-seq lymphoblastoid active region 15100 [Gene]
  • LOC130065131:ATAC-STARR-seq lymphoblastoid active region 15101 [Gene]
  • LOC130065133:ATAC-STARR-seq lymphoblastoid active region 15102 [Gene]
  • LOC130065137:ATAC-STARR-seq lymphoblastoid active region 15105 [Gene]
  • LOC130065138:ATAC-STARR-seq lymphoblastoid active region 15106 [Gene]
  • LOC130065142:ATAC-STARR-seq lymphoblastoid active region 15107 [Gene]
  • LOC130065084:ATAC-STARR-seq lymphoblastoid silent region 11013 [Gene]
  • LOC130065085:ATAC-STARR-seq lymphoblastoid silent region 11014 [Gene]
  • LOC130065086:ATAC-STARR-seq lymphoblastoid silent region 11015 [Gene]
  • LOC130065090:ATAC-STARR-seq lymphoblastoid silent region 11016 [Gene]
  • LOC130065102:ATAC-STARR-seq lymphoblastoid silent region 11021 [Gene]
  • LOC130065104:ATAC-STARR-seq lymphoblastoid silent region 11022 [Gene]
  • LOC130065105:ATAC-STARR-seq lymphoblastoid silent region 11023 [Gene]
  • LOC130065106:ATAC-STARR-seq lymphoblastoid silent region 11024 [Gene]
  • LOC130065107:ATAC-STARR-seq lymphoblastoid silent region 11025 [Gene]
  • LOC130065109:ATAC-STARR-seq lymphoblastoid silent region 11027 [Gene]
  • LOC130065112:ATAC-STARR-seq lymphoblastoid silent region 11030 [Gene]
  • LOC130065113:ATAC-STARR-seq lymphoblastoid silent region 11031 [Gene]
  • LOC130065116:ATAC-STARR-seq lymphoblastoid silent region 11032 [Gene]
  • LOC130065117:ATAC-STARR-seq lymphoblastoid silent region 11034 [Gene]
  • LOC130065118:ATAC-STARR-seq lymphoblastoid silent region 11035 [Gene]
  • LOC130065119:ATAC-STARR-seq lymphoblastoid silent region 11036 [Gene]
  • LOC130065120:ATAC-STARR-seq lymphoblastoid silent region 11037 [Gene]
  • LOC130065121:ATAC-STARR-seq lymphoblastoid silent region 11038 [Gene]
  • LOC130065123:ATAC-STARR-seq lymphoblastoid silent region 11039 [Gene]
  • LOC130065124:ATAC-STARR-seq lymphoblastoid silent region 11040 [Gene]
  • LOC130065125:ATAC-STARR-seq lymphoblastoid silent region 11043 [Gene]
  • LOC130065126:ATAC-STARR-seq lymphoblastoid silent region 11044 [Gene]
  • LOC130065127:ATAC-STARR-seq lymphoblastoid silent region 11045 [Gene]
  • LOC130065128:ATAC-STARR-seq lymphoblastoid silent region 11048 [Gene]
  • LOC130065132:ATAC-STARR-seq lymphoblastoid silent region 11051 [Gene]
  • LOC130065134:ATAC-STARR-seq lymphoblastoid silent region 11053 [Gene]
  • LOC130065135:ATAC-STARR-seq lymphoblastoid silent region 11055 [Gene]
  • LOC130065136:ATAC-STARR-seq lymphoblastoid silent region 11056 [Gene]
  • LOC130065139:ATAC-STARR-seq lymphoblastoid silent region 11057 [Gene]
  • LOC130065140:ATAC-STARR-seq lymphoblastoid silent region 11058 [Gene]
  • LOC130065141:ATAC-STARR-seq lymphoblastoid silent region 11059 [Gene]
  • LOC130065143:ATAC-STARR-seq lymphoblastoid silent region 11060 [Gene]
  • LOC130065144:ATAC-STARR-seq lymphoblastoid silent region 11061 [Gene]
  • BRSK1:BR serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • LOC116286196:CRISPRi-validated cis-regulatory element chr19.6204 [Gene]
  • DNAAF3-AS1:DNAAF3 antisense RNA 1 [Gene - HGNC]
  • EPS8L1:EPS8 signaling adaptor L1 [Gene - OMIM - HGNC]
  • FIZ1:FLT3 interacting zinc finger 1 [Gene - OMIM - HGNC]
  • HSPBP1:HSPA (Hsp70) binding protein 1 [Gene - OMIM - HGNC]
  • LOC129391144:MPRA-validated peak3567 silencer [Gene]
  • NAT14:N-acetyltransferase 14 (putative) [Gene - HGNC]
  • NLRP11:NLR family pyrin domain containing 11 [Gene - OMIM - HGNC]
  • NLRP9:NLR family pyrin domain containing 9 [Gene - OMIM - HGNC]
  • SBK2:SH3 domain binding kinase family member 2 [Gene - OMIM - HGNC]
  • SBK3:SH3 domain binding kinase family member 3 [Gene - HGNC]
  • LOC125384538:Sharpr-MPRA regulatory region 11129 [Gene]
  • LOC121852994:Sharpr-MPRA regulatory region 11471 [Gene]
  • LOC125384544:Sharpr-MPRA regulatory region 13032 [Gene]
  • LOC125384537:Sharpr-MPRA regulatory region 13763 [Gene]
  • LOC125384543:Sharpr-MPRA regulatory region 14522 [Gene]
  • LOC125384546:Sharpr-MPRA regulatory region 14549 [Gene]
  • LOC125384545:Sharpr-MPRA regulatory region 1979 [Gene]
  • LOC125384542:Sharpr-MPRA regulatory region 3421 [Gene]
  • LOC125384540:Sharpr-MPRA regulatory region 3758 [Gene]
  • LOC125384539:Sharpr-MPRA regulatory region 4976 [Gene]
  • LOC125384541:Sharpr-MPRA regulatory region 5021 [Gene]
  • LOC112553115:Sharpr-MPRA regulatory region 8373 [Gene]
  • U2AF2:U2 small nuclear RNA auxiliary factor 2 [Gene - OMIM - HGNC]
  • C19orf85:chromosome 19 open reading frame 85 [Gene - HGNC]
  • CCDC106:coiled-coil domain containing 106 [Gene - OMIM - HGNC]
  • COX6B2:cytochrome c oxidase subunit 6B2 [Gene - OMIM - HGNC]
  • DNAAF3:dynein axonemal assembly factor 3 [Gene - OMIM - HGNC]
  • EPN1:epsin 1 [Gene - OMIM - HGNC]
  • GARIN5B:golgi associated RAB2 interactor family member 5B [Gene - HGNC]
  • IL11:interleukin 11 [Gene - OMIM - HGNC]
  • ISOC2:isochorismatase domain containing 2 [Gene - OMIM - HGNC]
  • KMT5C:lysine methyltransferase 5C [Gene - OMIM - HGNC]
  • MIR6802:microRNA 6802 [Gene - HGNC]
  • MIR6803:microRNA 6803 [Gene - HGNC]
  • MIR6804:microRNA 6804 [Gene - HGNC]
  • MIR6805:microRNA 6805 [Gene - HGNC]
  • MIR7975:microRNA 7975 [Gene - HGNC]
  • PPP1R12C:protein phosphatase 1 regulatory subunit 12C [Gene - OMIM - HGNC]
  • PPP6R1:protein phosphatase 6 regulatory subunit 1 [Gene - OMIM - HGNC]
  • PTPRH:protein tyrosine phosphatase receptor type H [Gene - OMIM - HGNC]
  • RFPL4AL1:ret finger protein like 4A like 1 [Gene - HGNC]
  • RFPL4A:ret finger protein like 4A [Gene - OMIM - HGNC]
  • RDH13:retinol dehydrogenase 13 [Gene - HGNC]
  • RPL28:ribosomal protein L28 [Gene - OMIM - HGNC]
  • SSC5D:scavenger receptor cysteine rich family member with 5 domains [Gene - OMIM - HGNC]
  • SHISA7:shisa family member 7 [Gene - OMIM - HGNC]
  • SNORD157:small nucleolar RNA, C/D box 157 [Gene - HGNC]
  • SYT5:synaptotagmin 5 [Gene - OMIM - HGNC]
  • TMEM150B:transmembrane protein 150B [Gene - OMIM - HGNC]
  • TMEM190:transmembrane protein 190 [Gene - HGNC]
  • TMEM238:transmembrane protein 238 [Gene - HGNC]
  • TMEM86B:transmembrane protein 86B [Gene - OMIM - HGNC]
  • TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
  • TNNT1:troponin T1, slow skeletal type [Gene - OMIM - HGNC]
  • UBE2S:ubiquitin conjugating enzyme E2 S [Gene - OMIM - HGNC]
  • LOC107983998:uncharacterized LOC107983998 [Gene]
  • ZNF524:zinc finger protein 524 [Gene - HGNC]
  • ZNF579:zinc finger protein 579 [Gene - HGNC]
  • ZNF580:zinc finger protein 580 [Gene - OMIM - HGNC]
  • ZNF581:zinc finger protein 581 [Gene - HGNC]
  • ZNF628:zinc finger protein 628 [Gene - OMIM - HGNC]
  • ZNF784:zinc finger protein 784 [Gene - HGNC]
  • ZNF865:zinc finger protein 865 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3
HGVS:
  • NC_000019.10:g.(?_55066790)_(55789870_?)dup
  • NC_000019.9:g.(?_55578158)_(56301236_?)dup
Links:
dbVar: nssv3395014; dbVar: nsv995807
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
SCV000183234ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jul 18, 2014) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humande 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, SCV000183234.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024