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GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 5, 2011
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:
RCV000134940.6

Allele description [Variation Report for GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4]

GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4

Genes:
  • ARF1:ADP ribosylation factor 1 [Gene - OMIM - HGNC]
  • LOC129932688:ATAC-STARR-seq lymphoblastoid active region 2680 [Gene]
  • LOC129932691:ATAC-STARR-seq lymphoblastoid active region 2681 [Gene]
  • LOC129932692:ATAC-STARR-seq lymphoblastoid active region 2682 [Gene]
  • LOC129932693:ATAC-STARR-seq lymphoblastoid active region 2683 [Gene]
  • LOC129932694:ATAC-STARR-seq lymphoblastoid active region 2684 [Gene]
  • LOC129932695:ATAC-STARR-seq lymphoblastoid active region 2685 [Gene]
  • LOC129932699:ATAC-STARR-seq lymphoblastoid active region 2686 [Gene]
  • LOC129932703:ATAC-STARR-seq lymphoblastoid active region 2687 [Gene]
  • LOC129932707:ATAC-STARR-seq lymphoblastoid active region 2688 [Gene]
  • LOC129932708:ATAC-STARR-seq lymphoblastoid active region 2689 [Gene]
  • LOC129932709:ATAC-STARR-seq lymphoblastoid active region 2690 [Gene]
  • LOC129932711:ATAC-STARR-seq lymphoblastoid active region 2691 [Gene]
  • LOC129932712:ATAC-STARR-seq lymphoblastoid active region 2692 [Gene]
  • LOC129932715:ATAC-STARR-seq lymphoblastoid active region 2693 [Gene]
  • LOC129932719:ATAC-STARR-seq lymphoblastoid active region 2694 [Gene]
  • LOC129932721:ATAC-STARR-seq lymphoblastoid active region 2695 [Gene]
  • LOC129932723:ATAC-STARR-seq lymphoblastoid active region 2698 [Gene]
  • LOC129932724:ATAC-STARR-seq lymphoblastoid active region 2699 [Gene]
  • LOC129932689:ATAC-STARR-seq lymphoblastoid silent region 1899 [Gene]
  • LOC129932690:ATAC-STARR-seq lymphoblastoid silent region 1900 [Gene]
  • LOC129932696:ATAC-STARR-seq lymphoblastoid silent region 1901 [Gene]
  • LOC129932697:ATAC-STARR-seq lymphoblastoid silent region 1902 [Gene]
  • LOC129932698:ATAC-STARR-seq lymphoblastoid silent region 1903 [Gene]
  • LOC129932700:ATAC-STARR-seq lymphoblastoid silent region 1904 [Gene]
  • LOC129932701:ATAC-STARR-seq lymphoblastoid silent region 1905 [Gene]
  • LOC129932702:ATAC-STARR-seq lymphoblastoid silent region 1906 [Gene]
  • LOC129932704:ATAC-STARR-seq lymphoblastoid silent region 1907 [Gene]
  • LOC129932705:ATAC-STARR-seq lymphoblastoid silent region 1908 [Gene]
  • LOC129932706:ATAC-STARR-seq lymphoblastoid silent region 1909 [Gene]
  • LOC129932710:ATAC-STARR-seq lymphoblastoid silent region 1913 [Gene]
  • LOC129932713:ATAC-STARR-seq lymphoblastoid silent region 1914 [Gene]
  • LOC129932714:ATAC-STARR-seq lymphoblastoid silent region 1916 [Gene]
  • LOC129932716:ATAC-STARR-seq lymphoblastoid silent region 1917 [Gene]
  • LOC129932717:ATAC-STARR-seq lymphoblastoid silent region 1918 [Gene]
  • LOC129932718:ATAC-STARR-seq lymphoblastoid silent region 1919 [Gene]
  • LOC129932720:ATAC-STARR-seq lymphoblastoid silent region 1920 [Gene]
  • LOC129932722:ATAC-STARR-seq lymphoblastoid silent region 1924 [Gene]
  • LOC126806039:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136 [Gene]
  • H2AC25:H2A clustered histone 25 [Gene - OMIM - HGNC]
  • H2BC26:H2B clustered histone 26 [Gene - OMIM - HGNC]
  • H3-4:H3.4 histone, cluster member [Gene - OMIM - HGNC]
  • IBA57-DT:IBA57 divergent transcript [Gene - HGNC]
  • LOC105373289:LOC105373289 [Gene]
  • LOC129388767:MPRA-validated peak745 silencer [Gene]
  • LOC129388768:MPRA-validated peak746 silencer [Gene]
  • LOC129388769:MPRA-validated peak747 silencer [Gene]
  • LOC129388770:MPRA-validated peak748 silencer [Gene]
  • LOC129388771:MPRA-validated peak749 silencer [Gene]
  • OBSCN-AS1:OBSCN antisense RNA 1 [Gene - HGNC]
  • RNA5S10:RNA, 5S ribosomal 10 [Gene - HGNC]
  • RNA5S11:RNA, 5S ribosomal 11 [Gene - HGNC]
  • RNA5S12:RNA, 5S ribosomal 12 [Gene - HGNC]
  • RNA5S13:RNA, 5S ribosomal 13 [Gene - HGNC]
  • RNA5S14:RNA, 5S ribosomal 14 [Gene - HGNC]
  • RNA5S15:RNA, 5S ribosomal 15 [Gene - HGNC]
  • RNA5S16:RNA, 5S ribosomal 16 [Gene - HGNC]
  • RNA5S17:RNA, 5S ribosomal 17 [Gene - HGNC]
  • RNA5S1:RNA, 5S ribosomal 1 [Gene - HGNC]
  • RNA5S2:RNA, 5S ribosomal 2 [Gene - HGNC]
  • RNA5S3:RNA, 5S ribosomal 3 [Gene - HGNC]
  • RNA5S4:RNA, 5S ribosomal 4 [Gene - HGNC]
  • RNA5S5:RNA, 5S ribosomal 5 [Gene - HGNC]
  • RNA5S6:RNA, 5S ribosomal 6 [Gene - HGNC]
  • RNA5S7:RNA, 5S ribosomal 7 [Gene - HGNC]
  • RNA5S8:RNA, 5S ribosomal 8 [Gene - HGNC]
  • RNA5S9:RNA, 5S ribosomal 9 [Gene - HGNC]
  • LOC122152318:Sharpr-MPRA regulatory region 10577 [Gene]
  • LOC122152319:Sharpr-MPRA regulatory region 11146 [Gene]
  • LOC122152316:Sharpr-MPRA regulatory region 12629 [Gene]
  • LOC122152317:Sharpr-MPRA regulatory region 14212 [Gene]
  • LOC120908913:Sharpr-MPRA regulatory region 2560 [Gene]
  • LOC120908912:Sharpr-MPRA regulatory region 2676 [Gene]
  • LOC112577546:Sharpr-MPRA regulatory region 4086 [Gene]
  • LOC112577547:Sharpr-MPRA regulatory region 4602 [Gene]
  • LOC112577548:Sharpr-MPRA regulatory region 4759 [Gene]
  • WNT3A:Wnt family member 3A [Gene - OMIM - HGNC]
  • WNT9A:Wnt family member 9A [Gene - OMIM - HGNC]
  • BTNL10:butyrophilin like 10 [Gene - HGNC]
  • C1orf35:chromosome 1 open reading frame 35 [Gene - HGNC]
  • GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]
  • GUK1:guanylate kinase 1 [Gene - OMIM - HGNC]
  • IBA57:iron-sulfur cluster assembly factor IBA57 [Gene - OMIM - HGNC]
  • JMJD4:jumonji domain containing 4 [Gene - HGNC]
  • LINC02809:long intergenic non-protein coding RNA 2809 [Gene - HGNC]
  • LINC02814:long intergenic non-protein coding RNA 2814 [Gene - HGNC]
  • LINC02815:long intergenic non-protein coding RNA 2815 [Gene - HGNC]
  • MIR3620:microRNA 3620 [Gene - HGNC]
  • MIR4666A:microRNA 4666a [Gene - HGNC]
  • MIR5008:microRNA 5008 [Gene - HGNC]
  • MIR6742:microRNA 6742 [Gene - HGNC]
  • MRPL55:mitochondrial ribosomal protein L55 [Gene - OMIM - HGNC]
  • LOC120807606:negCOR silencer S7 [Gene]
  • OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM - HGNC]
  • RHOU:ras homolog family member U [Gene - OMIM - HGNC]
  • RNF187:ring finger protein 187 [Gene - OMIM - HGNC]
  • PRSS38:serine protease 38 [Gene - HGNC]
  • SNAP47:synaptosome associated protein 47 [Gene - OMIM - HGNC]
  • TRIM11:tripartite motif containing 11 [Gene - OMIM - HGNC]
  • TRIM17:tripartite motif containing 17 [Gene - OMIM - HGNC]
  • LOC107985355:uncharacterized LOC107985355 [Gene]
  • ZNF678:zinc finger protein 678 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4
HGVS:
  • NC_000001.11:g.(?_227613596)_(229249335_?)dup
  • NC_000001.10:g.(?_227801297)_(229385082_?)dup
  • NC_000001.9:g.(?_225867920)_(227451705_?)dup
Links:
dbVar: nssv584474; dbVar: nsv498087
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
SCV000174596ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Aug 5, 2011) 		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, SCV000174596.4

#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