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GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 24, 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:
RCV000141708.5

Allele description [Variation Report for GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1]

GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1

Genes:
  • LOC130063487:ATAC-STARR-seq lymphoblastoid active region 13959 [Gene]
  • LOC130063488:ATAC-STARR-seq lymphoblastoid active region 13960 [Gene]
  • LOC130063489:ATAC-STARR-seq lymphoblastoid active region 13962 [Gene]
  • LOC130063490:ATAC-STARR-seq lymphoblastoid active region 13963 [Gene]
  • LOC130063492:ATAC-STARR-seq lymphoblastoid active region 13965 [Gene]
  • LOC130063494:ATAC-STARR-seq lymphoblastoid active region 13966 [Gene]
  • LOC130063496:ATAC-STARR-seq lymphoblastoid active region 13967 [Gene]
  • LOC130063499:ATAC-STARR-seq lymphoblastoid active region 13968 [Gene]
  • LOC130063500:ATAC-STARR-seq lymphoblastoid active region 13969 [Gene]
  • LOC130063503:ATAC-STARR-seq lymphoblastoid active region 13970 [Gene]
  • LOC130063504:ATAC-STARR-seq lymphoblastoid active region 13971 [Gene]
  • LOC130063507:ATAC-STARR-seq lymphoblastoid active region 13973 [Gene]
  • LOC130063508:ATAC-STARR-seq lymphoblastoid active region 13974 [Gene]
  • LOC130063513:ATAC-STARR-seq lymphoblastoid active region 13975 [Gene]
  • LOC130063514:ATAC-STARR-seq lymphoblastoid active region 13976 [Gene]
  • LOC130063515:ATAC-STARR-seq lymphoblastoid active region 13977 [Gene]
  • LOC130063516:ATAC-STARR-seq lymphoblastoid active region 13979 [Gene]
  • LOC130063518:ATAC-STARR-seq lymphoblastoid active region 13980 [Gene]
  • LOC130063520:ATAC-STARR-seq lymphoblastoid active region 13981 [Gene]
  • LOC130063522:ATAC-STARR-seq lymphoblastoid active region 13983 [Gene]
  • LOC130063526:ATAC-STARR-seq lymphoblastoid active region 13985 [Gene]
  • LOC130063527:ATAC-STARR-seq lymphoblastoid active region 13986 [Gene]
  • LOC130063528:ATAC-STARR-seq lymphoblastoid active region 13987 [Gene]
  • LOC130063530:ATAC-STARR-seq lymphoblastoid active region 13988 [Gene]
  • LOC130063531:ATAC-STARR-seq lymphoblastoid active region 13989 [Gene]
  • LOC130063532:ATAC-STARR-seq lymphoblastoid active region 13990 [Gene]
  • LOC130063534:ATAC-STARR-seq lymphoblastoid active region 13991 [Gene]
  • LOC130063535:ATAC-STARR-seq lymphoblastoid active region 13992 [Gene]
  • LOC130063536:ATAC-STARR-seq lymphoblastoid active region 13993 [Gene]
  • LOC130063537:ATAC-STARR-seq lymphoblastoid active region 13995 [Gene]
  • LOC130063541:ATAC-STARR-seq lymphoblastoid active region 13996 [Gene]
  • LOC130063542:ATAC-STARR-seq lymphoblastoid active region 13997 [Gene]
  • LOC130063543:ATAC-STARR-seq lymphoblastoid active region 13998 [Gene]
  • LOC130063544:ATAC-STARR-seq lymphoblastoid active region 13999 [Gene]
  • LOC130063491:ATAC-STARR-seq lymphoblastoid silent region 10066 [Gene]
  • LOC130063493:ATAC-STARR-seq lymphoblastoid silent region 10067 [Gene]
  • LOC130063495:ATAC-STARR-seq lymphoblastoid silent region 10068 [Gene]
  • LOC130063497:ATAC-STARR-seq lymphoblastoid silent region 10069 [Gene]
  • LOC130063498:ATAC-STARR-seq lymphoblastoid silent region 10070 [Gene]
  • LOC130063501:ATAC-STARR-seq lymphoblastoid silent region 10071 [Gene]
  • LOC130063502:ATAC-STARR-seq lymphoblastoid silent region 10072 [Gene]
  • LOC130063505:ATAC-STARR-seq lymphoblastoid silent region 10075 [Gene]
  • LOC130063506:ATAC-STARR-seq lymphoblastoid silent region 10076 [Gene]
  • LOC130063509:ATAC-STARR-seq lymphoblastoid silent region 10078 [Gene]
  • LOC130063510:ATAC-STARR-seq lymphoblastoid silent region 10079 [Gene]
  • LOC130063511:ATAC-STARR-seq lymphoblastoid silent region 10080 [Gene]
  • LOC130063512:ATAC-STARR-seq lymphoblastoid silent region 10081 [Gene]
  • LOC130063517:ATAC-STARR-seq lymphoblastoid silent region 10083 [Gene]
  • LOC130063519:ATAC-STARR-seq lymphoblastoid silent region 10084 [Gene]
  • LOC130063521:ATAC-STARR-seq lymphoblastoid silent region 10085 [Gene]
  • LOC130063523:ATAC-STARR-seq lymphoblastoid silent region 10086 [Gene]
  • LOC130063524:ATAC-STARR-seq lymphoblastoid silent region 10087 [Gene]
  • LOC130063525:ATAC-STARR-seq lymphoblastoid silent region 10088 [Gene]
  • LOC130063529:ATAC-STARR-seq lymphoblastoid silent region 10090 [Gene]
  • LOC130063533:ATAC-STARR-seq lymphoblastoid silent region 10091 [Gene]
  • LOC130063538:ATAC-STARR-seq lymphoblastoid silent region 10092 [Gene]
  • LOC130063539:ATAC-STARR-seq lymphoblastoid silent region 10093 [Gene]
  • LOC130063540:ATAC-STARR-seq lymphoblastoid silent region 10094 [Gene]
  • ILF3-DT:ILF3 divergent transcript [Gene - HGNC]
  • KRI1:KRI1 homolog [Gene - HGNC]
  • LOC129391059:MPRA-validated peak3353 silencer [Gene]
  • LOC129391060:MPRA-validated peak3354 silencer [Gene]
  • LOC125371477:Sharpr-MPRA regulatory region 8442 [Gene]
  • AP1M2:adaptor related protein complex 1 subunit mu 2 [Gene - OMIM - HGNC]
  • ATG4D:autophagy related 4D cysteine peptidase [Gene - OMIM - HGNC]
  • CDC37:cell division cycle 37, HSP90 cochaperone [Gene - OMIM - HGNC]
  • C19orf38:chromosome 19 open reading frame 38 [Gene - HGNC]
  • CARM1:coactivator associated arginine methyltransferase 1 [Gene - OMIM - HGNC]
  • CDKN2D:cyclin dependent kinase inhibitor 2D [Gene - OMIM - HGNC]
  • DNM2:dynamin 2 [Gene - OMIM - HGNC]
  • ICAM3:intercellular adhesion molecule 3 [Gene - OMIM - HGNC]
  • ILF3:interleukin enhancer binding factor 3 [Gene - OMIM - HGNC]
  • KEAP1:kelch like ECH associated protein 1 [Gene - OMIM - HGNC]
  • MIR1181:microRNA 1181 [Gene - HGNC]
  • MIR1238:microRNA 1238 [Gene - HGNC]
  • MIR199A1:microRNA 199a-1 [Gene - OMIM - HGNC]
  • MIR4748:microRNA 4748 [Gene - HGNC]
  • MIR638:microRNA 638 [Gene - HGNC]
  • MIR6793:microRNA 6793 [Gene - HGNC]
  • PDE4A:phosphodiesterase 4A [Gene - OMIM - HGNC]
  • QTRT1:queuine tRNA-ribosyltransferase catalytic subunit 1 [Gene - OMIM - HGNC]
  • RAVER1:ribonucleoprotein, PTB binding 1 [Gene - OMIM - HGNC]
  • SLC44A2:solute carrier family 44 member 2 (CTL2 blood group) [Gene - OMIM - HGNC]
  • S1PR5:sphingosine-1-phosphate receptor 5 [Gene - OMIM - HGNC]
  • TMED1:transmembrane p24 trafficking protein 1 [Gene - OMIM - HGNC]
  • TYK2:tyrosine kinase 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1
HGVS:
  • NC_000019.10:g.(?_10330655)_(10920552_?)del
  • NC_000019.8:g.(?_10302331)_(10892228_?)del
  • NC_000019.9:g.(?_10441331)_(11031228_?)del
Links:
dbVar: nssv3396798; dbVar: nsv995244
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
SCV000182665ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Mar 24, 2014) 		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, SCV000182665.4

#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