GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 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:
RCV000148163.2

Allele description [Variation Report for GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3]

GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3

Genes:
  • BCL9:BCL9 transcription coactivator [Gene - OMIM - HGNC]
  • CD160:CD160 molecule [Gene - OMIM - HGNC]
  • GPR89A:G protein-coupled receptor 89A [Gene - OMIM - HGNC]
  • GPR89B:G protein-coupled receptor 89B [Gene - OMIM - HGNC]
  • LOC111556113:HNF4 motif-containing MPRA enhancer 9 [Gene]
  • LIX1L-AS1:LIX1L antisense RNA 1 [Gene - HGNC]
  • NBPF10:NBPF member 10 [Gene - OMIM - HGNC]
  • NBPF11:NBPF member 11 [Gene - OMIM - HGNC]
  • NBPF12:NBPF member 12 [Gene - OMIM - HGNC]
  • NBPF14:NBPF member 14 [Gene - OMIM - HGNC]
  • NBPF20:NBPF member 20 [Gene - OMIM - HGNC]
  • NBPF9:NBPF member 9 [Gene - OMIM - HGNC]
  • PDZK1:PDZ domain containing 1 [Gene - OMIM - HGNC]
  • LOC108254679:POLR3GL-TXNIP intergenic CAGE-defined low expression enhancer [Gene]
  • RBM8A:RNA binding motif protein 8A [Gene - OMIM - HGNC]
  • POLR3C:RNA polymerase III subunit C [Gene - OMIM - HGNC]
  • POLR3GL:RNA polymerase III subunit GL [Gene - OMIM - HGNC]
  • RNVU1-14:RNA, variant U1 small nuclear 14 [Gene - HGNC]
  • RNVU1-1:RNA, variant U1 small nuclear 1 [Gene - HGNC]
  • RNVU1-3:RNA, variant U1 small nuclear 3 [Gene - HGNC]
  • RNVU1-6:RNA, variant U1 small nuclear 6 [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]
  • ANKRD34A:ankyrin repeat domain 34A [Gene - HGNC]
  • ANKRD35:ankyrin repeat domain 35 [Gene - HGNC]
  • CHD1L:chromodomain helicase DNA binding protein 1 like [Gene - OMIM - HGNC]
  • LOC106783502:conserved acetylation island sequence C12 enhancer [Gene]
  • 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]
  • HJV:hemojuvelin BMP co-receptor [Gene - OMIM - HGNC]
  • ITGA10:integrin subunit alpha 10 [Gene - OMIM - HGNC]
  • LIX1L:limb and CNS expressed 1 like [Gene - HGNC]
  • LINC01138:long intergenic non-protein coding RNA 1138 [Gene - HGNC]
  • LINC01145:long intergenic non-protein coding RNA 1145 [Gene - HGNC]
  • LINC01719:long intergenic non-protein coding RNA 1719 [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]
  • MIR6736:microRNA 6736 [Gene - HGNC]
  • NOTCH2NLA:notch 2 N-terminal like A [Gene - OMIM - HGNC]
  • NOTCH2NLB:notch 2 N-terminal like B [Gene - OMIM - HGNC]
  • NUDT17:nudix hydrolase 17 [Gene - HGNC]
  • NUDT4B:nudix hydrolase 4B [Gene - HGNC]
  • PPIAL4D:peptidylprolyl isomerase A like 4D [Gene - HGNC]
  • PPIAL4G:peptidylprolyl isomerase A like 4G [Gene - HGNC]
  • PPIAL4H:peptidylprolyl isomerase A like 4H [Gene - HGNC]
  • PEX11B:peroxisomal biogenesis factor 11 beta [Gene - OMIM - HGNC]
  • PDE4DIP:phosphodiesterase 4D interacting protein [Gene - OMIM - HGNC]
  • PIAS3:protein inhibitor of activated STAT 3 [Gene - OMIM - HGNC]
  • PRKAB2:protein kinase AMP-activated non-catalytic subunit beta 2 [Gene - OMIM - HGNC]
  • RNF115:ring finger protein 115 [Gene - HGNC]
  • TRN-GTT2-1:tRNA-Asn (anticodon GTT) 2-1 [Gene - HGNC]
  • TRN-GTT2-7:tRNA-Asn (anticodon GTT) 2-7 [Gene - OMIM - HGNC]
  • TRN-GTT24-1:tRNA-Asn (anticodon GTT) 24-1 [Gene - HGNC]
  • TRN-GTT9-1:tRNA-Asn (anticodon GTT) 9-1 [Gene - HGNC]
  • TRN-GTT9-2:tRNA-Asn (anticodon GTT) 9-2 [Gene - HGNC]
  • TRQ-CTG3-1:tRNA-Gln (anticodon CTG) 3-1 [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]
  • TRE-CTC1-1:tRNA-Glu (anticodon CTC) 1-1 [Gene - HGNC]
  • TRG-TCC2-1:tRNA-Gly (anticodon TCC) 2-1 [Gene - HGNC]
  • TRH-GTG1-1:tRNA-His (anticodon GTG) 1-1 [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]
  • TRK-CTT2-1:tRNA-Lys (anticodon CTT) 2-1 [Gene - HGNC]
  • TXNIP:thioredoxin interacting protein [Gene - OMIM - HGNC]
  • LOC100996740:uncharacterized LOC100996740 [Gene]
  • LOC101927468:uncharacterized LOC101927468 [Gene]
  • CH17-408M7.1:uncharacterized LOC102724558 [Gene]
Variant type:
copy number gain
Cytogenetic location:
1q21.1-21.2
Genomic location:
Preferred name:
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3
HGVS:
  • NC_000001.11:g.(?_145215697)_(149076087_?)dup
  • NC_000001.10:g.(?_146143189)_(148545520_?)dup
  • NC_000001.9:g.(?_144854546)_(146812144_?)dup
Links:
dbVar: nssv576952; dbVar: nsv1067597
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
SCV000078020ISCA site 14

See additional submitters

criteria provided, single submitter
Pathogenic
(Aug 12, 2011)
maternalclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000078020

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 ISCA site 14, SCV000078020.5

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

Last Updated: May 19, 2021

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