GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)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:
RCV000051172.4

Allele description [Variation Report for GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1]

GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1

Genes:
  • ADAMTS4:ADAM metallopeptidase with thrombospondin type 1 motif 4 [Gene - OMIM - HGNC]
  • ATP1A2:ATPase Na+/K+ transporting subunit alpha 2 [Gene - OMIM - HGNC]
  • ATP1A4:ATPase Na+/K+ transporting subunit alpha 4 [Gene - OMIM - HGNC]
  • CRP:C-reactive protein [Gene - OMIM - HGNC]
  • CD244:CD244 molecule [Gene - OMIM - HGNC]
  • CD48:CD48 molecule [Gene - OMIM - HGNC]
  • CD84:CD84 molecule [Gene - OMIM - HGNC]
  • DCAF8:DDB1 and CUL4 associated factor 8 [Gene - OMIM - HGNC]
  • F11R:F11 receptor [Gene - OMIM - HGNC]
  • FCER1G:Fc fragment of IgE receptor Ig [Gene - OMIM - HGNC]
  • FCGR3A:Fc fragment of IgG receptor IIIa [Gene - OMIM - HGNC]
  • FCGR3B:Fc fragment of IgG receptor IIIb [Gene - OMIM - HGNC]
  • FCGR2A:Fc fragment of IgG receptor IIa [Gene - OMIM - HGNC]
  • FCGR2B:Fc fragment of IgG receptor IIb [Gene - OMIM - HGNC]
  • FCGR2C:Fc fragment of IgG receptor IIc (gene/pseudogene) [Gene - OMIM - HGNC]
  • FCRL6:Fc receptor like 6 [Gene - OMIM - HGNC]
  • FCRLA:Fc receptor like A [Gene - OMIM - HGNC]
  • FCRLB:Fc receptor like B [Gene - OMIM - HGNC]
  • LMX1A:LIM homeobox transcription factor 1 alpha [Gene - OMIM - HGNC]
  • NDUFS2:NADH:ubiquinone oxidoreductase core subunit S2 [Gene - OMIM - HGNC]
  • NUF2:NUF2, NDC80 kinetochore complex component [Gene - OMIM - HGNC]
  • PBX1:PBX homeobox 1 [Gene - OMIM - HGNC]
  • PCP4L1:Purkinje cell protein 4 like 1 [Gene - HGNC]
  • ARHGAP30:Rho GTPase activating protein 30 [Gene - OMIM - HGNC]
  • SH2D1B:SH2 domain containing 1B [Gene - OMIM - HGNC]
  • SLAMF6:SLAM family member 6 [Gene - OMIM - HGNC]
  • SLAMF7:SLAM family member 7 [Gene - OMIM - HGNC]
  • SLAMF8:SLAM family member 8 [Gene - OMIM - HGNC]
  • SLAMF9:SLAM family member 9 [Gene - OMIM - HGNC]
  • UHMK1:U2AF homology motif kinase 1 [Gene - OMIM - HGNC]
  • UAP1:UDP-N-acetylglucosamine pyrophosphorylase 1 [Gene - OMIM - HGNC]
  • VSIG8:V-set and immunoglobulin domain containing 8 [Gene - HGNC]
  • VANGL2:VANGL planar cell polarity protein 2 [Gene - OMIM - HGNC]
  • ATF6:activating transcription factor 6 [Gene - OMIM - HGNC]
  • ALDH9A1:aldehyde dehydrogenase 9 family member A1 [Gene - OMIM - HGNC]
  • APCS:amyloid P component, serum [Gene - OMIM - HGNC]
  • APOA2:apolipoprotein A2 [Gene - OMIM - HGNC]
  • B4GALT3:beta-1,4-galactosyltransferase 3 [Gene - OMIM - HGNC]
  • CASQ1:calsequestrin 1 [Gene - OMIM - HGNC]
  • C1orf226:chromosome 1 open reading frame 226 [Gene - HGNC]
  • CFAP126:cilia and flagella associated protein 126 [Gene - OMIM - HGNC]
  • CFAP45:cilia and flagella associated protein 45 [Gene - OMIM - HGNC]
  • COPA:coatomer protein complex subunit alpha [Gene - OMIM - HGNC]
  • CCDC190:coiled-coil domain containing 190 [Gene - HGNC]
  • DEDD:death effector domain containing [Gene - OMIM - HGNC]
  • DDR2:discoidin domain receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
  • DUSP12:dual specificity phosphatase 12 [Gene - OMIM - HGNC]
  • DUSP23:dual specificity phosphatase 23 [Gene - HGNC]
  • FAM78B:family with sequence similarity 78 member B [Gene - HGNC]
  • HSPA6:heat shock protein family A (Hsp70) member 6 [Gene - OMIM - HGNC]
  • HSD17B7:hydroxysteroid 17-beta dehydrogenase 7 [Gene - OMIM - HGNC]
  • IGSF8:immunoglobulin superfamily member 8 [Gene - OMIM - HGNC]
  • IGSF9:immunoglobulin superfamily member 9 [Gene - OMIM - HGNC]
  • ITLN1:intelectin 1 [Gene - OMIM - HGNC]
  • ITLN2:intelectin 2 [Gene - OMIM - HGNC]
  • KLHDC9:kelch domain containing 9 [Gene - OMIM - HGNC]
  • LRRC52:leucine rich repeat containing 52 [Gene - OMIM - HGNC]
  • LINC01133:long intergenic non-protein coding RNA 1133 [Gene - HGNC]
  • LINC01675:long intergenic non-protein coding RNA 1675 [Gene - HGNC]
  • LY9:lymphocyte antigen 9 [Gene - OMIM - HGNC]
  • MIR3658:microRNA 3658 [Gene - HGNC]
  • MIR4259:microRNA 4259 [Gene - HGNC]
  • MIR4654:microRNA 4654 [Gene - HGNC]
  • MIR5187:microRNA 5187 [Gene - HGNC]
  • MIR556:microRNA 556 [Gene - HGNC]
  • MIR921:microRNA 921 [Gene - HGNC]
  • MGST3:microsomal glutathione S-transferase 3 [Gene - OMIM - HGNC]
  • MPZ:myelin protein zero [Gene - OMIM - HGNC]
  • NECTIN4:nectin cell adhesion molecule 4 [Gene - OMIM - HGNC]
  • NHLH1:nescient helix-loop-helix 1 [Gene - OMIM - HGNC]
  • NCSTN:nicastrin [Gene - OMIM - HGNC]
  • NOS1AP:nitric oxide synthase 1 adaptor protein [Gene - OMIM - HGNC]
  • NIT1:nitrilase 1 [Gene - OMIM - HGNC]
  • NR1I3:nuclear receptor subfamily 1 group I member 3 [Gene - OMIM - HGNC]
  • OLFML2B:olfactomedin like 2B [Gene - HGNC]
  • OR10J5:olfactory receptor family 10 subfamily J member 5 [Gene - HGNC]
  • PEX19:peroxisomal biogenesis factor 19 [Gene - OMIM - HGNC]
  • PIGM:phosphatidylinositol glycan anchor biosynthesis class M [Gene - OMIM - HGNC]
  • POGK:pogo transposable element derived with KRAB domain [Gene - HGNC]
  • KCNJ10:potassium voltage-gated channel subfamily J member 10 [Gene - OMIM - HGNC]
  • KCNJ9:potassium voltage-gated channel subfamily J member 9 [Gene - OMIM - HGNC]
  • PFDN2:prefoldin subunit 2 [Gene - OMIM - HGNC]
  • PEA15:proliferation and apoptosis adaptor protein 15 [Gene - OMIM - HGNC]
  • PPOX:protoporphyrinogen oxidase [Gene - OMIM - HGNC]
  • RGS4:regulator of G protein signaling 4 [Gene - OMIM - HGNC]
  • RGS5:regulator of G protein signaling 5 [Gene - OMIM - HGNC]
  • RXRG:retinoid X receptor gamma [Gene - OMIM - HGNC]
  • SLAMF1:signaling lymphocytic activation molecule family member 1 [Gene - OMIM - HGNC]
  • SNHG28:small nucleolar RNA host gene 28 [Gene - HGNC]
  • SPATA46:spermatogenesis associated 46 [Gene - OMIM - HGNC]
  • SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]
  • TSTD1:thiosulfate sulfurtransferase like domain containing 1 [Gene - OMIM - HGNC]
  • TADA1:transcriptional adaptor 1 [Gene - OMIM - HGNC]
  • TRN-GTT1-1:transfer RNA-Asn (GTT) 1-1 [Gene - HGNC]
  • TRN-GTT2-2:transfer RNA-Asn (GTT) 2-2 [Gene - HGNC]
  • TRD-GTC2-1:transfer RNA-Asp (GTC) 2-1 [Gene - HGNC]
  • TRD-GTC2-2:transfer RNA-Asp (GTC) 2-2 [Gene - HGNC]
  • TRD-GTC2-3:transfer RNA-Asp (GTC) 2-3 [Gene - HGNC]
  • TRD-GTC2-4:transfer RNA-Asp (GTC) 2-4 [Gene - HGNC]
  • TRD-GTC2-5:transfer RNA-Asp (GTC) 2-5 [Gene - HGNC]
  • TRE-CTC1-2:transfer RNA-Glu (CTC) 1-2 [Gene - HGNC]
  • TRE-CTC1-3:transfer RNA-Glu (CTC) 1-3 [Gene - HGNC]
  • TRE-CTC1-4:transfer RNA-Glu (CTC) 1-4 [Gene - HGNC]
  • TRE-CTC1-5:transfer RNA-Glu (CTC) 1-5 [Gene - HGNC]
  • TRE-TTC4-2:transfer RNA-Glu (TTC) 4-2 [Gene - HGNC]
  • TRG-GCC1-1:transfer RNA-Gly (GCC) 1-1 [Gene - HGNC]
  • TRG-GCC1-2:transfer RNA-Gly (GCC) 1-2 [Gene - HGNC]
  • TRG-GCC1-3:transfer RNA-Gly (GCC) 1-3 [Gene - HGNC]
  • TRG-GCC1-4:transfer RNA-Gly (GCC) 1-4 [Gene - HGNC]
  • TRG-GCC2-1:transfer RNA-Gly (GCC) 2-1 [Gene - HGNC]
  • TRG-GCC4-1:transfer RNA-Gly (GCC) 4-1 [Gene - HGNC]
  • TRG-TCC2-2:transfer RNA-Gly (TCC) 2-2 [Gene - HGNC]
  • TRG-TCC2-3:transfer RNA-Gly (TCC) 2-3 [Gene - HGNC]
  • TRG-TCC2-4:transfer RNA-Gly (TCC) 2-4 [Gene - HGNC]
  • TRG-TCC2-5:transfer RNA-Gly (TCC) 2-5 [Gene - HGNC]
  • TRG-TCC2-6:transfer RNA-Gly (TCC) 2-6 [Gene - HGNC]
  • TRG-TCC4-1:transfer RNA-Gly (TCC) 4-1 [Gene - HGNC]
  • TRL-CAA6-1:transfer RNA-Leu (CAA) 6-1 [Gene - HGNC]
  • TRL-CAG1-1:transfer RNA-Leu (CAG) 1-1 [Gene - HGNC]
  • TRL-CAG1-2:transfer RNA-Leu (CAG) 1-2 [Gene - HGNC]
  • TRL-CAG1-3:transfer RNA-Leu (CAG) 1-3 [Gene - HGNC]
  • TRL-CAG1-4:transfer RNA-Leu (CAG) 1-4 [Gene - HGNC]
  • TRL-CAG1-5:transfer RNA-Leu (CAG) 1-5 [Gene - HGNC]
  • TRL-CAG1-6:transfer RNA-Leu (CAG) 1-6 [Gene - HGNC]
  • TRV-CAC1-1:transfer RNA-Val (CAC) 1-1 [Gene - HGNC]
  • TAGLN2:transgelin 2 [Gene - OMIM - HGNC]
  • TOMM40L:translocase of outer mitochondrial membrane 40 like [Gene - HGNC]
  • TMCO1:transmembrane and coiled-coil domains 1 [Gene - OMIM - HGNC]
  • USP21:ubiquitin specific peptidase 21 [Gene - OMIM - HGNC]
  • UFC1:ubiquitin-fold modifier conjugating enzyme 1 [Gene - OMIM - HGNC]
  • LOC100147773:uncharacterized LOC100147773 [Gene]
  • LOC100287049:uncharacterized LOC100287049 [Gene]
  • LOC100505795:uncharacterized LOC100505795 [Gene]
  • LOC101928372:uncharacterized LOC101928372 [Gene]
  • LOC101928404:uncharacterized LOC101928404 [Gene]
  • LOC400794:uncharacterized LOC400794 [Gene]
  • LOC729867:uncharacterized LOC729867 [Gene]
  • USF1:upstream transcription factor 1 [Gene - OMIM - HGNC]
  • UCK2:uridine-cytidine kinase 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q23.2-24.1
Genomic location:
Preferred name:
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1
HGVS:
  • NC_000001.11:g.(?_159479887)_(166895086_?)del
  • NC_000001.10:g.(?_159449677)_(166864323_?)del
  • NC_000001.9:g.(?_157716301)_(165130947_?)del
Links:
dbVar: nssv577227; dbVar: nsv529716
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
SCV000078516ISCA site 4

See additional submitters

criteria provided, single submitter
Pathogenic
(Aug 12, 2011)
not providedclinical 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.

SCV000078516

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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 4, SCV000078516.4

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

Last Updated: Dec 2, 2017