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GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 30, 2010
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:
RCV000136772.5

Allele description [Variation Report for GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3]

GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3

Genes:
  • MTR:5-methyltetrahydrofolate-homocysteine methyltransferase [Gene - OMIM - HGNC]
  • LOC129932851:ATAC-STARR-seq lymphoblastoid active region 2803 [Gene]
  • LOC129932853:ATAC-STARR-seq lymphoblastoid active region 2804 [Gene]
  • LOC129932854:ATAC-STARR-seq lymphoblastoid active region 2805 [Gene]
  • LOC129932855:ATAC-STARR-seq lymphoblastoid active region 2806 [Gene]
  • LOC129932858:ATAC-STARR-seq lymphoblastoid active region 2807 [Gene]
  • LOC129932860:ATAC-STARR-seq lymphoblastoid active region 2808 [Gene]
  • LOC129869688:ATAC-STARR-seq lymphoblastoid active region 2809 [Gene]
  • LOC129932862:ATAC-STARR-seq lymphoblastoid active region 2812 [Gene]
  • LOC129929020:ATAC-STARR-seq lymphoblastoid active region 2813 [Gene]
  • LOC129932867:ATAC-STARR-seq lymphoblastoid active region 2814 [Gene]
  • LOC129932868:ATAC-STARR-seq lymphoblastoid active region 2815 [Gene]
  • LOC129932870:ATAC-STARR-seq lymphoblastoid active region 2816 [Gene]
  • LOC129932871:ATAC-STARR-seq lymphoblastoid active region 2817 [Gene]
  • LOC129932872:ATAC-STARR-seq lymphoblastoid active region 2818 [Gene]
  • LOC129932873:ATAC-STARR-seq lymphoblastoid active region 2819 [Gene]
  • LOC129932876:ATAC-STARR-seq lymphoblastoid active region 2820 [Gene]
  • LOC129932877:ATAC-STARR-seq lymphoblastoid active region 2821 [Gene]
  • LOC129932878:ATAC-STARR-seq lymphoblastoid active region 2822 [Gene]
  • LOC129932879:ATAC-STARR-seq lymphoblastoid active region 2823 [Gene]
  • LOC129932883:ATAC-STARR-seq lymphoblastoid active region 2825 [Gene]
  • LOC129932885:ATAC-STARR-seq lymphoblastoid active region 2826 [Gene]
  • LOC129932886:ATAC-STARR-seq lymphoblastoid active region 2827 [Gene]
  • LOC129932850:ATAC-STARR-seq lymphoblastoid silent region 1989 [Gene]
  • LOC129932852:ATAC-STARR-seq lymphoblastoid silent region 1990 [Gene]
  • LOC129932856:ATAC-STARR-seq lymphoblastoid silent region 1991 [Gene]
  • LOC129932857:ATAC-STARR-seq lymphoblastoid silent region 1992 [Gene]
  • LOC129932859:ATAC-STARR-seq lymphoblastoid silent region 1993 [Gene]
  • LOC129932861:ATAC-STARR-seq lymphoblastoid silent region 1994 [Gene]
  • LOC129932863:ATAC-STARR-seq lymphoblastoid silent region 1995 [Gene]
  • LOC129932864:ATAC-STARR-seq lymphoblastoid silent region 1996 [Gene]
  • LOC129932865:ATAC-STARR-seq lymphoblastoid silent region 1997 [Gene]
  • LOC129932866:ATAC-STARR-seq lymphoblastoid silent region 1998 [Gene]
  • LOC129932869:ATAC-STARR-seq lymphoblastoid silent region 1999 [Gene]
  • LOC129932874:ATAC-STARR-seq lymphoblastoid silent region 2000 [Gene]
  • LOC129932875:ATAC-STARR-seq lymphoblastoid silent region 2001 [Gene]
  • LOC129932880:ATAC-STARR-seq lymphoblastoid silent region 2002 [Gene]
  • LOC129932881:ATAC-STARR-seq lymphoblastoid silent region 2003 [Gene]
  • LOC129932882:ATAC-STARR-seq lymphoblastoid silent region 2004 [Gene]
  • LOC129932884:ATAC-STARR-seq lymphoblastoid silent region 2005 [Gene]
  • LOC126806062:BRD4-independent group 4 enhancer GRCh37_chr1:235832683-235833882 [Gene]
  • LOC126806064:BRD4-independent group 4 enhancer GRCh37_chr1:235884502-235885701 [Gene]
  • LOC126806065:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:236073306-236074505 [Gene]
  • EDARADD:EDAR associated via death domain [Gene - OMIM - HGNC]
  • GNG4:G protein subunit gamma 4 [Gene - OMIM - HGNC]
  • GPR137B:G protein-coupled receptor 137B [Gene - OMIM - HGNC]
  • HEATR1:HEAT repeat containing 1 [Gene - OMIM - HGNC]
  • LGALS8-AS1:LGALS8 antisense RNA 1 [Gene - HGNC]
  • LOC126806060:MED14-independent group 3 enhancer GRCh37_chr1:235605546-235606745 [Gene]
  • LOC126806063:MED14-independent group 3 enhancer GRCh37_chr1:235871544-235872743 [Gene]
  • LOC129388781:MPRA-validated peak773 silencer [Gene]
  • LOC129388782:MPRA-validated peak774 silencer [Gene]
  • LOC129388783:MPRA-validated peak779 silencer [Gene]
  • LOC129388784:MPRA-validated peak780 silencer [Gene]
  • LOC129388785:MPRA-validated peak781 silencer [Gene]
  • LOC129388786:MPRA-validated peak782 silencer [Gene]
  • LOC129388787:MPRA-validated peak784 silencer [Gene]
  • LOC129388788:MPRA-validated peak785 silencer [Gene]
  • LOC129388789:MPRA-validated peak786 silencer [Gene]
  • LOC129388790:MPRA-validated peak787 silencer [Gene]
  • LOC129388791:MPRA-validated peak789 silencer [Gene]
  • LOC107548103:MS32 minisatellite repeat instability region [Gene]
  • LOC126806061:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:235695340-235696539 [Gene]
  • LOC126264117:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:236162526-236163725 [Gene]
  • LOC112577560:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:236259904-236261103 [Gene]
  • LOC120908923:Sharpr-MPRA regulatory region 105 [Gene]
  • LOC122152345:Sharpr-MPRA regulatory region 11090 [Gene]
  • LOC122152346:Sharpr-MPRA regulatory region 1811 [Gene]
  • LOC112577561:Sharpr-MPRA regulatory region 2344 [Gene]
  • LOC122152347:Sharpr-MPRA regulatory region 3741 [Gene]
  • LOC110121264:VISTA enhancer hs2135 [Gene]
  • LOC110121265:VISTA enhancer hs2137 [Gene]
  • LOC110121266:VISTA enhancer hs2138 [Gene]
  • ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
  • B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • LOC108004528:control region 3 heart enhancer [Gene]
  • ERO1B:endoplasmic reticulum oxidoreductase 1 beta [Gene - OMIM - HGNC]
  • LGALS8:galectin 8 [Gene - OMIM - HGNC]
  • LINC02768:long intergenic non-protein coding RNA 2768 [Gene - HGNC]
  • LYST:lysosomal trafficking regulator [Gene - OMIM - HGNC]
  • LOC107546778:meiotic recombination hotspot MSTM1 [Gene]
  • LOC107546780:meiotic recombination hotspot MSTM2 [Gene]
  • LOC107546745:meiotic recombination hotspot NID1 [Gene]
  • LOC107546746:meiotic recombination hotspot NID2 [Gene]
  • LOC107546747:meiotic recombination hotspot NID3 [Gene]
  • MT1HL1:metallothionein 1H like 1 [Gene - HGNC]
  • MIR1537:microRNA 1537 [Gene - HGNC]
  • NID1:nidogen 1 [Gene - OMIM - HGNC]
  • RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
  • TBCE:tubulin folding cofactor E [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q42.3-43
Genomic location:
Preferred name:
GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3
HGVS:
  • NC_000001.11:g.(?_235387992)_(237270632_?)dup
  • NC_000001.10:g.(?_235551307)_(237433932_?)dup
  • NC_000001.9:g.(?_233617930)_(235500555_?)dup
Links:
dbVar: nssv582151; dbVar: nsv534117
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
SCV000176893ISCA site 8

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 30, 2010) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not 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 8, SCV000176893.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024