GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Jul 14, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1]

GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1

  • BCL9:BCL9 transcription coactivator [Gene - OMIM - HGNC]
  • GPR89B:G protein-coupled receptor 89B [Gene - OMIM - HGNC]
  • LOC111556113:HNF4 motif-containing MPRA enhancer 9 [Gene]
  • NBPF11:NBPF member 11 [Gene - OMIM - HGNC]
  • NBPF12:NBPF member 12 [Gene - OMIM - HGNC]
  • NBPF14:NBPF member 14 [Gene - OMIM - HGNC]
  • RNVU1-1:RNA, variant U1 small nuclear 1 [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]
  • LOC112577490:Sharpr-MPRA regulatory region 3868 [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]
  • LINC02804:long intergenic non-protein coding RNA 2804 [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]
Variant type:
copy number loss
Cytogenetic location:
Genomic location:
Preferred name:
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1
  • NC_000001.11:g.(?_146964168)_(148572213_?)del
  • NC_000001.10:g.(?_145888925)_(147926347_?)del
  • NC_000001.9:g.(?_144600282)_(146392971_?)del
dbVar: nssv13648995; dbVar: nssv3395054; dbVar: nsv995842


See cases [See the Variation display for details]

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000183269ISCA site 1

See additional submitters

no assertion criteria providedPathogenic
(Jul 14, 2015)
not providedclinical testing

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


Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.


Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].


Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not providednot providednot providednot providedclinical testing



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]

Details of each submission

From ISCA site 1, SCV000183269.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Mar 12, 2021

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