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GRCh38/hg38 1q22(chr1:155834419-156434205)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 24, 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:
RCV000138885.4

Allele description [Variation Report for GRCh38/hg38 1q22(chr1:155834419-156434205)x3]

GRCh38/hg38 1q22(chr1:155834419-156434205)x3

Genes:
  • ARHGEF2-AS2:ARHGEF2 antisense RNA 2 [Gene - HGNC]
  • LOC129931574:ATAC-STARR-seq lymphoblastoid active region 1820 [Gene]
  • LOC129931575:ATAC-STARR-seq lymphoblastoid active region 1821 [Gene]
  • LOC129931576:ATAC-STARR-seq lymphoblastoid active region 1822 [Gene]
  • LOC129931578:ATAC-STARR-seq lymphoblastoid active region 1825 [Gene]
  • LOC129931579:ATAC-STARR-seq lymphoblastoid active region 1826 [Gene]
  • LOC129931580:ATAC-STARR-seq lymphoblastoid active region 1827 [Gene]
  • LOC129931581:ATAC-STARR-seq lymphoblastoid active region 1828 [Gene]
  • LOC129931582:ATAC-STARR-seq lymphoblastoid active region 1829 [Gene]
  • LOC129931585:ATAC-STARR-seq lymphoblastoid active region 1830 [Gene]
  • LOC129931586:ATAC-STARR-seq lymphoblastoid active region 1832 [Gene]
  • LOC129931587:ATAC-STARR-seq lymphoblastoid active region 1833 [Gene]
  • LOC129931588:ATAC-STARR-seq lymphoblastoid active region 1834 [Gene]
  • LOC129931593:ATAC-STARR-seq lymphoblastoid active region 1835 [Gene]
  • LOC129931594:ATAC-STARR-seq lymphoblastoid active region 1836 [Gene]
  • LOC129931595:ATAC-STARR-seq lymphoblastoid active region 1838 [Gene]
  • LOC129931598:ATAC-STARR-seq lymphoblastoid active region 1843 [Gene]
  • LOC129931599:ATAC-STARR-seq lymphoblastoid active region 1845 [Gene]
  • LOC129931600:ATAC-STARR-seq lymphoblastoid active region 1846 [Gene]
  • LOC129931601:ATAC-STARR-seq lymphoblastoid active region 1847 [Gene]
  • LOC129931602:ATAC-STARR-seq lymphoblastoid active region 1848 [Gene]
  • LOC129931603:ATAC-STARR-seq lymphoblastoid active region 1849 [Gene]
  • LOC129931604:ATAC-STARR-seq lymphoblastoid active region 1850 [Gene]
  • LOC129931605:ATAC-STARR-seq lymphoblastoid active region 1851 [Gene]
  • LOC129931606:ATAC-STARR-seq lymphoblastoid active region 1852 [Gene]
  • LOC129931607:ATAC-STARR-seq lymphoblastoid active region 1853 [Gene]
  • LOC129931608:ATAC-STARR-seq lymphoblastoid active region 1854 [Gene]
  • LOC129931609:ATAC-STARR-seq lymphoblastoid active region 1855 [Gene]
  • LOC129931610:ATAC-STARR-seq lymphoblastoid active region 1856 [Gene]
  • LOC129931612:ATAC-STARR-seq lymphoblastoid active region 1857 [Gene]
  • LOC129931616:ATAC-STARR-seq lymphoblastoid active region 1858 [Gene]
  • LOC129931617:ATAC-STARR-seq lymphoblastoid active region 1859 [Gene]
  • LOC129931577:ATAC-STARR-seq lymphoblastoid silent region 1410 [Gene]
  • LOC129931583:ATAC-STARR-seq lymphoblastoid silent region 1411 [Gene]
  • LOC129931584:ATAC-STARR-seq lymphoblastoid silent region 1412 [Gene]
  • LOC129931589:ATAC-STARR-seq lymphoblastoid silent region 1414 [Gene]
  • LOC129931590:ATAC-STARR-seq lymphoblastoid silent region 1415 [Gene]
  • LOC129931591:ATAC-STARR-seq lymphoblastoid silent region 1416 [Gene]
  • LOC129931592:ATAC-STARR-seq lymphoblastoid silent region 1417 [Gene]
  • LOC129931596:ATAC-STARR-seq lymphoblastoid silent region 1420 [Gene]
  • LOC129931597:ATAC-STARR-seq lymphoblastoid silent region 1421 [Gene]
  • LOC129931611:ATAC-STARR-seq lymphoblastoid silent region 1422 [Gene]
  • LOC129931613:ATAC-STARR-seq lymphoblastoid silent region 1423 [Gene]
  • LOC129931614:ATAC-STARR-seq lymphoblastoid silent region 1424 [Gene]
  • LOC129931615:ATAC-STARR-seq lymphoblastoid silent region 1425 [Gene]
  • LOC129931618:ATAC-STARR-seq lymphoblastoid silent region 1426 [Gene]
  • LOC129931619:ATAC-STARR-seq lymphoblastoid silent region 1427 [Gene]
  • LOC110013312:BGLAP promoter region [Gene]
  • LOC122128443:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:155931313-155932512 [Gene]
  • LOC115801448:CRISPRi-validated cis-regulatory element chr1.9068 [Gene]
  • LOC122128444:H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:156045982-156046889 and GRCh37_chr1:156046890-156047796 [Gene]
  • KHDC4:KH domain containing 4, pre-mRNA splicing factor [Gene - OMIM - HGNC]
  • LOC126805876:MED14-independent group 3 enhancer GRCh37_chr1:155903710-155904909 [Gene]
  • LOC126805877:MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 [Gene]
  • MIR9-1HG:MIR9-1 host gene [Gene - OMIM - HGNC]
  • LOC129388612:MPRA-validated peak424 silencer [Gene]
  • PMF1-BGLAP:PMF1-BGLAP readthrough [Gene - HGNC]
  • RAB25:RAB25, member RAS oncogene family [Gene - OMIM - HGNC]
  • RIT1:Ras like without CAAX 1 [Gene - OMIM - HGNC]
  • RHBG:Rh family B glycoprotein [Gene - OMIM - HGNC]
  • ARHGEF2:Rho/Rac guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
  • SMG5:SMG5 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • LOC121725059:Sharpr-MPRA regulatory region 15377 [Gene]
  • LOC122128446:Sharpr-MPRA regulatory region 198 [Gene]
  • LOC122128442:Sharpr-MPRA regulatory region 2022 [Gene]
  • LOC122128445:Sharpr-MPRA regulatory region 3040 [Gene]
  • LOC120893162:Sharpr-MPRA regulatory region 4592 [Gene]
  • LOC122128441:Sharpr-MPRA regulatory region 7686 [Gene]
  • LOC111828496:Sharpr-MPRA regulatory regions 9834 and 13552 [Gene]
  • TSACC:TSSK6 activating cochaperone [Gene - OMIM - HGNC]
  • VHLL:VHL like [Gene - OMIM - HGNC]
  • LOC110121262:VISTA enhancer hs2129 [Gene]
  • BGLAP:bone gamma-carboxyglutamate protein [Gene - OMIM - HGNC]
  • CCT3:chaperonin containing TCP1 subunit 3 [Gene - OMIM - HGNC]
  • GLMP:glycosylated lysosomal membrane protein [Gene - OMIM - HGNC]
  • GON4L:gon-4 like [Gene - OMIM - HGNC]
  • LMNA:lamin A/C [Gene - OMIM - HGNC]
  • LAMTOR2:late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 [Gene - OMIM - HGNC]
  • MEX3A:mex-3 RNA binding family member A [Gene - OMIM - HGNC]
  • MIR6738:microRNA 6738 [Gene - HGNC]
  • MIR9-1:microRNA 9-1 [Gene - OMIM - HGNC]
  • PMF1:polyamine modulated factor 1 [Gene - OMIM - HGNC]
  • PAQR6:progestin and adipoQ receptor family member 6 [Gene - OMIM - HGNC]
  • RXFP4:relaxin family peptide/INSL5 receptor 4 [Gene - OMIM - HGNC]
  • SEMA4A:semaphorin 4A [Gene - OMIM - HGNC]
  • SSR2:signal sequence receptor subunit 2 [Gene - OMIM - HGNC]
  • SCARNA4:small Cajal body-specific RNA 4 [Gene - HGNC]
  • SNORA80E:small nucleolar RNA, H/ACA box 80E [Gene - HGNC]
  • SLC25A44:solute carrier family 25 member 44 [Gene - OMIM - HGNC]
  • SYT11:synaptotagmin 11 [Gene - OMIM - HGNC]
  • TMEM79:transmembrane protein 79 [Gene - OMIM - HGNC]
  • UBQLN4:ubiquilin 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q22
Genomic location:
Preferred name:
GRCh38/hg38 1q22(chr1:155834419-156434205)x3
HGVS:
  • NC_000001.11:g.(?_155834419)_(156434205_?)dup
  • NC_000001.10:g.(?_155804210)_(156403997_?)dup
  • NC_000001.9:g.(?_154070834)_(154670621_?)dup
Links:
dbVar: nssv1602219; dbVar: nsv916198
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
SCV000179320ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Oct 24, 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, SCV000179320.4

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

Last Updated: Oct 14, 2023