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GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 26, 2013
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:
RCV000140438.6

Allele description [Variation Report for GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3]

GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3

Genes:
  • AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • AKT3-IT1:AKT3 intronic transcript 1 [Gene - HGNC]
  • LOC129932892:ATAC-STARR-seq lymphoblastoid active region 2831 [Gene]
  • LOC129932894:ATAC-STARR-seq lymphoblastoid active region 2832 [Gene]
  • LOC129932896:ATAC-STARR-seq lymphoblastoid active region 2833 [Gene]
  • LOC129932897:ATAC-STARR-seq lymphoblastoid active region 2836 [Gene]
  • LOC129932898:ATAC-STARR-seq lymphoblastoid active region 2837 [Gene]
  • LOC129932899:ATAC-STARR-seq lymphoblastoid active region 2838 [Gene]
  • LOC129932900:ATAC-STARR-seq lymphoblastoid active region 2839 [Gene]
  • LOC129932904:ATAC-STARR-seq lymphoblastoid active region 2840 [Gene]
  • LOC129932905:ATAC-STARR-seq lymphoblastoid active region 2841 [Gene]
  • LOC129932907:ATAC-STARR-seq lymphoblastoid active region 2844 [Gene]
  • LOC129932908:ATAC-STARR-seq lymphoblastoid active region 2845 [Gene]
  • LOC129932910:ATAC-STARR-seq lymphoblastoid active region 2846 [Gene]
  • LOC129932915:ATAC-STARR-seq lymphoblastoid active region 2848 [Gene]
  • LOC129932921:ATAC-STARR-seq lymphoblastoid active region 2849 [Gene]
  • LOC129932893:ATAC-STARR-seq lymphoblastoid silent region 2011 [Gene]
  • LOC129932895:ATAC-STARR-seq lymphoblastoid silent region 2012 [Gene]
  • LOC129932901:ATAC-STARR-seq lymphoblastoid silent region 2013 [Gene]
  • LOC129932902:ATAC-STARR-seq lymphoblastoid silent region 2014 [Gene]
  • LOC129932903:ATAC-STARR-seq lymphoblastoid silent region 2015 [Gene]
  • LOC129932906:ATAC-STARR-seq lymphoblastoid silent region 2016 [Gene]
  • LOC129932909:ATAC-STARR-seq lymphoblastoid silent region 2017 [Gene]
  • LOC129932911:ATAC-STARR-seq lymphoblastoid silent region 2018 [Gene]
  • LOC129932912:ATAC-STARR-seq lymphoblastoid silent region 2019 [Gene]
  • LOC129932913:ATAC-STARR-seq lymphoblastoid silent region 2020 [Gene]
  • LOC129932914:ATAC-STARR-seq lymphoblastoid silent region 2022 [Gene]
  • LOC129932916:ATAC-STARR-seq lymphoblastoid silent region 2023 [Gene]
  • LOC129932917:ATAC-STARR-seq lymphoblastoid silent region 2024 [Gene]
  • LOC129932918:ATAC-STARR-seq lymphoblastoid silent region 2025 [Gene]
  • LOC129932919:ATAC-STARR-seq lymphoblastoid silent region 2026 [Gene]
  • LOC129932920:ATAC-STARR-seq lymphoblastoid silent region 2027 [Gene]
  • LOC126806074:BRD4-independent group 4 enhancer GRCh37_chr1:243617070-243618269 [Gene]
  • LOC126806076:BRD4-independent group 4 enhancer GRCh37_chr1:244623002-244624201 [Gene]
  • LOC126806078:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:245248413-245249612 [Gene]
  • EFCAB2:EF-hand calcium binding domain 2 [Gene - OMIM - HGNC]
  • LOC126806073:MED14-independent group 3 enhancer GRCh37_chr1:243431137-243432336 [Gene]
  • LOC126806075:MED14-independent group 3 enhancer GRCh37_chr1:244402369-244403568 [Gene]
  • LOC126806077:MED14-independent group 3 enhancer GRCh37_chr1:244898381-244899580 [Gene]
  • LOC129388799:MPRA-validated peak4110 silencer [Gene]
  • LOC129388800:MPRA-validated peak807 silencer [Gene]
  • LOC129388801:MPRA-validated peak808 silencer [Gene]
  • LOC129388802:MPRA-validated peak809 silencer [Gene]
  • SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
  • LOC112577566:Sharpr-MPRA regulatory region 14056 [Gene]
  • LOC122152353:Sharpr-MPRA regulatory region 1428 [Gene]
  • LOC122152354:Sharpr-MPRA regulatory region 3339 [Gene]
  • LOC122152352:Sharpr-MPRA regulatory region 5448 [Gene]
  • LOC122152351:Sharpr-MPRA regulatory region 8354 [Gene]
  • LOC122152350:Sharpr-MPRA regulatory region 9224 [Gene]
  • LOC111828504:Sharpr-MPRA regulatory regions 872 and 4511 [Gene]
  • LOC110120698:VISTA enhancer hs545 [Gene]
  • ADSS2:adenylosuccinate synthase 2 [Gene - OMIM - HGNC]
  • CATSPERE:catsper channel auxiliary subunit epsilon [Gene - OMIM - HGNC]
  • CEP170:centrosomal protein 170 [Gene - OMIM - HGNC]
  • C1orf202:chromosome 1 open reading frame 202 [Gene - HGNC]
  • COX20:cytochrome c oxidase assembly factor COX20 [Gene - OMIM - HGNC]
  • DESI2:desumoylating isopeptidase 2 [Gene - OMIM - HGNC]
  • HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]
  • LINC01347:long intergenic non-protein coding RNA 1347 [Gene - HGNC]
  • LINC02774:long intergenic non-protein coding RNA 2774 [Gene - HGNC]
  • MIR4677:microRNA 4677 [Gene - HGNC]
  • SNORA100:small nucleolar RNA, H/ACA box 100 [Gene - HGNC]
  • SPMIP3:sperm microtubule inner protein 3 [Gene - HGNC]
  • LOC101928068:uncharacterized LOC101928068 [Gene]
  • LOC440742:uncharacterized LOC440742 [Gene]
  • ZBTB18:zinc finger and BTB domain containing 18 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q43-44
Genomic location:
Preferred name:
GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3
HGVS:
  • NC_000001.11:g.(?_242782194)_(245138126_?)dup
  • NC_000001.10:g.(?_242945496)_(245301428_?)dup
Links:
dbVar: nssv1609678; dbVar: nsv931631
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
SCV000181129ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Mar 26, 2013) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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, SCV000181129.4

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

Last Updated: May 7, 2024