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GRCh38/hg38 1q21.1-21.2(chr1:146387442-148577050)x3 AND Chromosome 1q21.1 duplication syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 26, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004577966.1

Allele description [Variation Report for GRCh38/hg38 1q21.1-21.2(chr1:146387442-148577050)x3]

GRCh38/hg38 1q21.1-21.2(chr1:146387442-148577050)x3

Genes:
  • LOC129931358:ATAC-STARR-seq lymphoblastoid active region 1635 [Gene]
  • LOC129931359:ATAC-STARR-seq lymphoblastoid active region 1637 [Gene]
  • LOC129931360:ATAC-STARR-seq lymphoblastoid active region 1638 [Gene]
  • LOC129931361:ATAC-STARR-seq lymphoblastoid active region 1639 [Gene]
  • LOC129931362:ATAC-STARR-seq lymphoblastoid active region 1640 [Gene]
  • LOC129931363:ATAC-STARR-seq lymphoblastoid active region 1641 [Gene]
  • LOC129931364:ATAC-STARR-seq lymphoblastoid active region 1648 [Gene]
  • LOC129931366:ATAC-STARR-seq lymphoblastoid active region 1649 [Gene]
  • LOC129931352:ATAC-STARR-seq lymphoblastoid silent region 1277 [Gene]
  • LOC129931353:ATAC-STARR-seq lymphoblastoid silent region 1278 [Gene]
  • LOC129931354:ATAC-STARR-seq lymphoblastoid silent region 1279 [Gene]
  • LOC129931355:ATAC-STARR-seq lymphoblastoid silent region 1280 [Gene]
  • LOC129931356:ATAC-STARR-seq lymphoblastoid silent region 1281 [Gene]
  • LOC129931357:ATAC-STARR-seq lymphoblastoid silent region 1282 [Gene]
  • LOC129931365:ATAC-STARR-seq lymphoblastoid silent region 1286 [Gene]
  • LOC129931367:ATAC-STARR-seq lymphoblastoid silent region 1287 [Gene]
  • BCL9:BCL9 transcription coactivator [Gene - OMIM - HGNC]
  • LOC126805854:BRD4-independent group 4 enhancer GRCh37_chr1:146764440-146765639 [Gene]
  • LOC126805852:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:146501494-146502693 [Gene]
  • GPR89B:G protein-coupled receptor 89B [Gene - OMIM - HGNC]
  • LOC111556113:HNF4 motif-containing MPRA enhancer 9 [Gene]
  • LOC129388602:MPRA-validated peak400 silencer [Gene]
  • LOC129388603:MPRA-validated peak402 silencer [Gene]
  • LOC129388604:MPRA-validated peak403 silencer [Gene]
  • NBPF11:NBPF member 11 [Gene - OMIM - HGNC]
  • NBPF12:NBPF member 12 [Gene - OMIM - HGNC]
  • NBPF14:NBPF member 14 [Gene - OMIM - HGNC]
  • LOC126805853:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:146633127-146634326 [Gene]
  • RNVU1-1:RNA, variant U1 small nuclear 1 [Gene - HGNC]
  • RNVU1-27:RNA, variant U1 small nuclear 27 [Gene - HGNC]
  • RNVU1-3:RNA, variant U1 small nuclear 3 [Gene - HGNC]
  • RNVU1-7:RNA, variant U1 small nuclear 7 [Gene - HGNC]
  • RNVU1-8:RNA, variant U1 small nuclear 8 [Gene - HGNC]
  • LOC121725052:Sharpr-MPRA regulatory region 10305 [Gene]
  • LOC122128420:Sharpr-MPRA regulatory region 3144 [Gene]
  • LOC112577490:Sharpr-MPRA regulatory region 3868 [Gene]
  • LOC121725051:Sharpr-MPRA regulatory region 5908 [Gene]
  • LOC121725053:Sharpr-MPRA regulatory region 879 [Gene]
  • LOC110121261:VISTA enhancer hs2126 [Gene]
  • ACP6:acid phosphatase 6, lysophosphatidic [Gene - OMIM - HGNC]
  • CHD1L:chromodomain helicase DNA binding protein 1 like [Gene - OMIM - HGNC]
  • FMO5:flavin containing dimethylaniline monoxygenase 5 [Gene - OMIM - HGNC]
  • GJA5:gap junction protein alpha 5 [Gene - OMIM - HGNC]
  • GJA8:gap junction protein alpha 8 [Gene - OMIM - HGNC]
  • LINC01138:long intergenic non-protein coding RNA 1138 [Gene - HGNC]
  • LINC01731:long intergenic non-protein coding RNA 1731 [Gene - HGNC]
  • LINC02805:long intergenic non-protein coding RNA 2805 [Gene - HGNC]
  • LINC02806:long intergenic non-protein coding RNA 2806 [Gene - HGNC]
  • LINC00624:long intergenic non-protein coding RNA 624 [Gene - HGNC]
  • MIR5087:microRNA 5087 [Gene - HGNC]
  • MIR6077:microRNA 6077 [Gene - HGNC]
  • PPIAL4G:peptidylprolyl isomerase A like 4G [Gene - HGNC]
  • PRKAB2:protein kinase AMP-activated non-catalytic subunit beta 2 [Gene - OMIM - HGNC]
  • TRN-GTT2-1:tRNA-Asn (anticodon GTT) 2-1 [Gene - HGNC]
  • TRN-GTT9-2:tRNA-Asn (anticodon GTT) 9-2 [Gene - HGNC]
  • TRQ-CTG3-2:tRNA-Gln (anticodon CTG) 3-2 [Gene - HGNC]
  • TRQ-CTG4-1:tRNA-Gln (anticodon CTG) 4-1 [Gene - HGNC]
  • TRQ-CTG7-1:tRNA-Gln (anticodon CTG) 7-1 [Gene - HGNC]
  • TRH-GTG1-2:tRNA-His (anticodon GTG) 1-2 [Gene - HGNC]
  • TRH-GTG1-3:tRNA-His (anticodon GTG) 1-3 [Gene - HGNC]
  • TRH-GTG1-4:tRNA-His (anticodon GTG) 1-4 [Gene - HGNC]
  • LOC101927468:uncharacterized LOC101927468 [Gene]
  • CH17-408M7.1:uncharacterized LOC102724558 [Gene]
  • LOC128071544:uncharacterized LOC128071544 [Gene]
Variant type:
copy number gain
Cytogenetic location:
1q21.1-21.2
Genomic location:
Chr1: 146387442 - 148577050 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 1q21.1-21.2(chr1:146387442-148577050)x3
HGVS:

    Condition(s)

    Name:
    Chromosome 1q21.1 duplication syndrome
    Synonyms:
    1q21.1 recurrent microduplication
    Identifiers:
    MONDO: MONDO:0012915; MedGen: C2675891; Orphanet: 250994; OMIM: 612475

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV005061843Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
    criteria provided, single submitter

    (ACMG Guidelines, 2015)    		Pathogenic
    (Jun 26, 2024)     		germlineclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

    Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

    Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

    PubMed [citation]
    PMID:
    25741868
    PMCID:
    PMC4544753

    Details of each submission

    From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV005061843.1

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

    Last Updated: Jul 7, 2024