GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000053734.6

Allele description [Variation Report for GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1]

GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1

Genes:
  • 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]
  • RNVU1-7:RNA, variant U1 small nuclear 7 [Gene - HGNC]
  • RNVU1-8:RNA, variant U1 small nuclear 8 [Gene - HGNC]
  • 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]
  • LINC02804:long intergenic non-protein coding RNA 2804 [Gene - HGNC]
  • LINC02805:long intergenic non-protein coding RNA 2805 [Gene - HGNC]
  • LINC00624:long intergenic non-protein coding RNA 624 [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]
  • TRH-GTG1-2:tRNA-His (anticodon GTG) 1-2 [Gene - HGNC]
  • LOC101927468:uncharacterized LOC101927468 [Gene]
Variant type:
copy number loss
Cytogenetic location:
1q21.1
Genomic location:
Preferred name:
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1
HGVS:
  • NC_000001.11:g.(?_146987841)_(148234205_?)del
  • NC_000001.10:g.(?_145310254)_(146491118_?)del
  • NC_000001.9:g.(?_144021611)_(144957742_?)del
Note:
N.B.: Remap data for this variant included multiple placements, suggesting it falls within a region of the genome that significantly changed between assemblies. We present the highest-scoring remap placement here; however the variant's location should be interpreted with caution.
Links:
dbVar: nssv579594; dbVar: nsv532395
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000081097GeneDxcriteria provided, single submitter
Pathogenic
(Aug 12, 2011)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000081097.6

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

Last Updated: Mar 12, 2021

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