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GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 9, 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:
RCV000142798.5

Allele description [Variation Report for GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1]

GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1

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]
  • 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]
  • 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]
  • LOC126805853:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:146633127-146634326 [Gene]
  • 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]
  • 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]
  • PRKAB2:protein kinase AMP-activated non-catalytic subunit beta 2 [Gene - OMIM - 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]
  • LOC128071544:uncharacterized LOC128071544 [Gene]
Variant type:
copy number loss
Cytogenetic location:
1q21.1-21.2
Genomic location:
Preferred name:
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1
HGVS:
  • NC_000001.11:g.(?_146987841)_(148355961_?)del
  • NC_000001.10:g.(?_145626237)_(147828089_?)del
  • NC_000001.9:g.(?_144337594)_(146294713_?)del
Links:
dbVar: nssv1494838; dbVar: nssv1601722; dbVar: nssv1602013; dbVar: nssv1604154; dbVar: nssv1604370; dbVar: nssv1604655; dbVar: nssv1608112; dbVar: nssv1609367; dbVar: nssv1609603; dbVar: nssv1610085; dbVar: nsv869300
Observations:
10

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
SCV000178365ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 9, 2013) 		maternal, paternal, unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing
not providednot providedyes5not providednot providednot providednot providedclinical testing
not providedpaternalyes2not providednot providednot providednot providedclinical testing
humannot providedyes2not 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, SCV000178365.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
3not provided1not providednot providedclinical testing PubMed (1)
4not provided1not providednot providedclinical testing PubMed (1)
5not provided1not providednot providedclinical testing PubMed (1)
6not provided1not providednot providedclinical testing PubMed (1)
7not provided1not providednot providedclinical testing PubMed (1)
8not provided1not providednot providedclinical testing PubMed (1)
9human1not providednot providedclinical testing PubMed (1)
10human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided
3unknownyesnot providednot providedDiscovery1not providednot providednot provided
4unknownyesnot providednot providedDiscovery1not providednot providednot provided
5unknownyesnot providednot providedDiscovery1not providednot providednot provided
6unknownyesnot providednot providedDiscovery1not providednot providednot provided
7paternalyesnot providednot providedDiscovery1not providednot providednot provided
8paternalyesnot providednot providedDiscovery1not providednot providednot provided
9unknownyesnot providednot providedDiscovery1not providednot providednot provided
10unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024