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GRCh38/hg38 7p22.3(chr7:45130-1298050)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 23, 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:
RCV000143341.7

Allele description [Variation Report for GRCh38/hg38 7p22.3(chr7:45130-1298050)x1]

GRCh38/hg38 7p22.3(chr7:45130-1298050)x1

Genes:
  • LOC129997720:ATAC-STARR-seq lymphoblastoid active region 25469 [Gene]
  • LOC129997721:ATAC-STARR-seq lymphoblastoid active region 25470 [Gene]
  • LOC129997727:ATAC-STARR-seq lymphoblastoid active region 25471 [Gene]
  • LOC129997728:ATAC-STARR-seq lymphoblastoid active region 25473 [Gene]
  • LOC129997736:ATAC-STARR-seq lymphoblastoid active region 25474 [Gene]
  • LOC129997737:ATAC-STARR-seq lymphoblastoid active region 25475 [Gene]
  • LOC129997741:ATAC-STARR-seq lymphoblastoid active region 25476 [Gene]
  • LOC129997743:ATAC-STARR-seq lymphoblastoid active region 25477 [Gene]
  • LOC129997745:ATAC-STARR-seq lymphoblastoid active region 25478 [Gene]
  • LOC129997746:ATAC-STARR-seq lymphoblastoid active region 25479 [Gene]
  • LOC129997747:ATAC-STARR-seq lymphoblastoid active region 25480 [Gene]
  • LOC129997749:ATAC-STARR-seq lymphoblastoid active region 25481 [Gene]
  • LOC129997754:ATAC-STARR-seq lymphoblastoid active region 25482 [Gene]
  • LOC129997757:ATAC-STARR-seq lymphoblastoid active region 25484 [Gene]
  • LOC129997762:ATAC-STARR-seq lymphoblastoid active region 25486 [Gene]
  • LOC129997763:ATAC-STARR-seq lymphoblastoid active region 25487 [Gene]
  • LOC129997766:ATAC-STARR-seq lymphoblastoid active region 25488 [Gene]
  • LOC129997718:ATAC-STARR-seq lymphoblastoid silent region 17803 [Gene]
  • LOC129997719:ATAC-STARR-seq lymphoblastoid silent region 17804 [Gene]
  • LOC129997722:ATAC-STARR-seq lymphoblastoid silent region 17808 [Gene]
  • LOC129997723:ATAC-STARR-seq lymphoblastoid silent region 17809 [Gene]
  • LOC129997724:ATAC-STARR-seq lymphoblastoid silent region 17812 [Gene]
  • LOC129997725:ATAC-STARR-seq lymphoblastoid silent region 17813 [Gene]
  • LOC129997726:ATAC-STARR-seq lymphoblastoid silent region 17814 [Gene]
  • LOC129997729:ATAC-STARR-seq lymphoblastoid silent region 17815 [Gene]
  • LOC129997730:ATAC-STARR-seq lymphoblastoid silent region 17816 [Gene]
  • LOC129997731:ATAC-STARR-seq lymphoblastoid silent region 17817 [Gene]
  • LOC129997732:ATAC-STARR-seq lymphoblastoid silent region 17818 [Gene]
  • LOC129997733:ATAC-STARR-seq lymphoblastoid silent region 17819 [Gene]
  • LOC129997734:ATAC-STARR-seq lymphoblastoid silent region 17820 [Gene]
  • LOC129997735:ATAC-STARR-seq lymphoblastoid silent region 17821 [Gene]
  • LOC129997738:ATAC-STARR-seq lymphoblastoid silent region 17822 [Gene]
  • LOC129997739:ATAC-STARR-seq lymphoblastoid silent region 17823 [Gene]
  • LOC129997740:ATAC-STARR-seq lymphoblastoid silent region 17824 [Gene]
  • LOC129997742:ATAC-STARR-seq lymphoblastoid silent region 17825 [Gene]
  • LOC129997744:ATAC-STARR-seq lymphoblastoid silent region 17826 [Gene]
  • LOC129997748:ATAC-STARR-seq lymphoblastoid silent region 17827 [Gene]
  • LOC129997750:ATAC-STARR-seq lymphoblastoid silent region 17828 [Gene]
  • LOC129997751:ATAC-STARR-seq lymphoblastoid silent region 17829 [Gene]
  • LOC129997752:ATAC-STARR-seq lymphoblastoid silent region 17830 [Gene]
  • LOC129997753:ATAC-STARR-seq lymphoblastoid silent region 17832 [Gene]
  • LOC129997755:ATAC-STARR-seq lymphoblastoid silent region 17835 [Gene]
  • LOC129997756:ATAC-STARR-seq lymphoblastoid silent region 17836 [Gene]
  • LOC129997758:ATAC-STARR-seq lymphoblastoid silent region 17839 [Gene]
  • LOC129997759:ATAC-STARR-seq lymphoblastoid silent region 17840 [Gene]
  • LOC129997760:ATAC-STARR-seq lymphoblastoid silent region 17841 [Gene]
  • LOC129997761:ATAC-STARR-seq lymphoblastoid silent region 17842 [Gene]
  • LOC129997764:ATAC-STARR-seq lymphoblastoid silent region 17843 [Gene]
  • LOC129997765:ATAC-STARR-seq lymphoblastoid silent region 17844 [Gene]
  • LOC129997767:ATAC-STARR-seq lymphoblastoid silent region 17845 [Gene]
  • LOC129997768:ATAC-STARR-seq lymphoblastoid silent region 17848 [Gene]
  • ADAP1:ArfGAP with dual PH domains 1 [Gene - OMIM - HGNC]
  • LOC126859922:BRD4-independent group 4 enhancer GRCh37_chr7:1156037-1157236 [Gene]
  • LOC126859917:BRD4-independent group 4 enhancer GRCh37_chr7:690976-692175 [Gene]
  • LOC126859918:BRD4-independent group 4 enhancer GRCh37_chr7:791462-792661 [Gene]
  • LOC126859923:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:1220431-1221630 [Gene]
  • LOC126859920:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:821444-822643 [Gene]
  • FAM20C:FAM20C golgi associated secretory pathway kinase [Gene - OMIM - HGNC]
  • FOXL3-OT1:FOXL3 overlapping transcript 1 [Gene - HGNC]
  • GPER1:G protein-coupled estrogen receptor 1 [Gene - OMIM - HGNC]
  • GPR146:G protein-coupled receptor 146 [Gene - HGNC]
  • LOC126859916:MED14-independent group 3 enhancer GRCh37_chr7:475441-476640 [Gene]
  • LOC129389726:MPRA-validated peak6332 silencer [Gene]
  • LOC129389727:MPRA-validated peak6334 silencer [Gene]
  • LOC129389728:MPRA-validated peak6338 silencer [Gene]
  • LOC109623491:MS31A repeat instability region [Gene]
  • LOC132090775:Neanderthal introgressed variant-containing enhancer experimental_100798 [Gene]
  • LOC132089513:Neanderthal introgressed variant-containing enhancer experimental_97501 [Gene]
  • LOC126859919:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:807142-808341 [Gene]
  • LOC126859921:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:871666-872865 [Gene]
  • LOC121740675:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:984861-986060 [Gene]
  • PDGFA-DT:PDGFA divergent transcript [Gene - HGNC]
  • PRKAR1B-AS1:PRKAR1B antisense RNA 1 [Gene - HGNC]
  • PRKAR1B-AS2:PRKAR1B antisense RNA 2 [Gene - HGNC]
  • SUN1:Sad1 and UNC84 domain containing 1 [Gene - OMIM - HGNC]
  • LOC114004405:Sharpr-MPRA regulatory region 11358 [Gene]
  • LOC113687202:Sharpr-MPRA regulatory region 13780 [Gene]
  • LOC113748400:Sharpr-MPRA regulatory region 3057 [Gene]
  • LOC123924886:Sharpr-MPRA regulatory region 5475 [Gene]
  • LOC123924885:Sharpr-MPRA regulatory region 7003 [Gene]
  • LOC113748401:Sharpr-MPRA regulatory region 8552 [Gene]
  • UNCX:UNC homeobox [Gene - HGNC]
  • LOC110120649:VISTA enhancer hs293 [Gene]
  • ZFAND2A-DT:ZFAND2A divergent transcript [Gene - HGNC]
  • C7orf50:chromosome 7 open reading frame 50 [Gene - HGNC]
  • CYP2W1:cytochrome P450 family 2 subfamily W member 1 [Gene - OMIM - HGNC]
  • COX19:cytochrome c oxidase assembly factor COX19 [Gene - OMIM - HGNC]
  • DNAAF5:dynein axonemal assembly factor 5 [Gene - OMIM - HGNC]
  • FOXL3:forkhead box L3 [Gene - HGNC]
  • GET4:guided entry of tail-anchored proteins factor 4 [Gene - OMIM - HGNC]
  • LINC03014:long intergenic non-protein coding RNA 3014 [Gene - HGNC]
  • LINC03015:long intergenic non-protein coding RNA 3015 [Gene - HGNC]
  • MIR339:microRNA 339 [Gene - OMIM - HGNC]
  • LOC106799841:nonconserved acetylation island sequence 100 enhancer [Gene]
  • PDGFA:platelet derived growth factor subunit A [Gene - OMIM - HGNC]
  • PRKAR1B:protein kinase cAMP-dependent type I regulatory subunit beta [Gene - OMIM - HGNC]
  • LOC101929756:uncharacterized LOC101929756 [Gene]
  • LOC105375113:uncharacterized LOC105375113 [Gene]
  • LOC105375115:uncharacterized LOC105375115 [Gene]
  • LOC105375120:uncharacterized LOC105375120 [Gene]
  • LOC112267991:uncharacterized LOC112267991 [Gene]
  • LOC116435278:uncharacterized LOC116435278 [Gene]
  • LOC442497:uncharacterized LOC442497 [Gene]
  • ZFAND2A:zinc finger AN1-type containing 2A [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7p22.3
Genomic location:
Preferred name:
GRCh38/hg38 7p22.3(chr7:45130-1298050)x1
HGVS:
  • NC_000007.14:g.(?_45130)_(1298050_?)del
  • NC_000007.12:g.(?_140213)_(1304212_?)del
  • NC_000007.13:g.(?_45130)_(1337686_?)del
Links:
dbVar: nssv3396456; dbVar: nsv993418
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
SCV000182225ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Oct 23, 2012) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humanmaternalyes1not 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, SCV000182225.4

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

Last Updated: May 7, 2024