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GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002052930.3

Allele description [Variation Report for GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)]

GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)

Genes:
  • BRMS1:BRMS1 transcriptional repressor and anoikis regulator [Gene - OMIM - HGNC]
  • BBS1:Bardet-Biedl syndrome 1 [Gene - OMIM - HGNC]
  • CD248:CD248 molecule [Gene - OMIM - HGNC]
  • CDC42EP2:CDC42 effector protein 2 [Gene - OMIM - HGNC]
  • POLA2:DNA polymerase alpha 2, accessory subunit [Gene - OMIM - HGNC]
  • DRAP1:DR1 associated protein 1 [Gene - OMIM - HGNC]
  • EFEMP2:EGF containing fibulin extracellular matrix protein 2 [Gene - OMIM - HGNC]
  • EHBP1L1:EH domain binding protein 1 like 1 [Gene - OMIM - HGNC]
  • FRMD8:FERM domain containing 8 [Gene - OMIM - HGNC]
  • FIBP:FGF1 intracellular binding protein [Gene - OMIM - HGNC]
  • FOSL1:FOS like 1, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • MUS81:MUS81 structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • RAB1B:RAB1B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBM14-RBM4:RBM14-RBM4 readthrough [Gene - HGNC]
  • RELA:RELA proto-oncogene, NF-kB subunit [Gene - OMIM - HGNC]
  • RBM14:RNA binding motif protein 14 [Gene - OMIM - HGNC]
  • RIN1:Ras and Rab interactor 1 [Gene - OMIM - HGNC]
  • SCYL1:SCY1 like pseudokinase 1 [Gene - OMIM - HGNC]
  • YIF1A:Yip1 interacting factor homolog A, membrane trafficking protein [Gene - OMIM - HGNC]
  • ACTN3:actinin alpha 3 [Gene - OMIM - HGNC]
  • AP5B1:adaptor related protein complex 5 subunit beta 1 [Gene - OMIM - HGNC]
  • BANF1:barrier to autointegration nuclear assembly factor 1 [Gene - OMIM - HGNC]
  • B4GAT1:beta-1,4-glucuronyltransferase 1 [Gene - OMIM - HGNC]
  • CAPN1:calpain 1 [Gene - OMIM - HGNC]
  • CTSF:cathepsin F [Gene - OMIM - HGNC]
  • CTSW:cathepsin W [Gene - OMIM - HGNC]
  • CATSPER1:cation channel sperm associated 1 [Gene - OMIM - HGNC]
  • C11orf68:chromosome 11 open reading frame 68 [Gene - HGNC]
  • CFL1:cofilin 1 [Gene - OMIM - HGNC]
  • CCDC85B:coiled-coil domain containing 85B [Gene - OMIM - HGNC]
  • CCDC87:coiled-coil domain containing 87 [Gene - HGNC]
  • CCS:copper chaperone for superoxide dismutase [Gene - OMIM - HGNC]
  • CNIH2:cornichon family AMPA receptor auxiliary protein 2 [Gene - OMIM - HGNC]
  • CST6:cystatin E/M [Gene - OMIM - HGNC]
  • DPP3:dipeptidyl peptidase 3 [Gene - OMIM - HGNC]
  • DPF2:double PHD fingers 2 [Gene - OMIM - HGNC]
  • EIF1AD:eukaryotic translation initiation factor 1A domain containing [Gene - OMIM - HGNC]
  • FAM89B:family with sequence similarity 89 member B [Gene - OMIM - HGNC]
  • GAL3ST3:galactose-3-O-sulfotransferase 3 [Gene - OMIM - HGNC]
  • KLC2:kinesin light chain 2 [Gene - OMIM - HGNC]
  • LTBP3:latent transforming growth factor beta binding protein 3 [Gene - OMIM - HGNC]
  • KAT5:lysine acetyltransferase 5 [Gene - OMIM - HGNC]
  • MALAT1:metastasis associated lung adenocarcinoma transcript 1 [Gene - OMIM - HGNC]
  • MRPL11:mitochondrial ribosomal protein L11 [Gene - OMIM - HGNC]
  • MAP3K11:mitogen-activated protein kinase kinase kinase 11 [Gene - OMIM - HGNC]
  • NPAS4:neuronal PAS domain protein 4 [Gene - OMIM - HGNC]
  • NEAT1:nuclear paraspeckle assembly transcript 1 [Gene - OMIM - HGNC]
  • OVOL1:ovo like transcriptional repressor 1 [Gene - OMIM - HGNC]
  • PCNX3:pecanex 3 [Gene - OMIM - HGNC]
  • PELI3:pellino E3 ubiquitin protein ligase family member 3 [Gene - OMIM - HGNC]
  • PACS1:phosphofurin acidic cluster sorting protein 1 [Gene - OMIM - HGNC]
  • KCNK7:potassium two pore domain channel subfamily K member 7 [Gene - OMIM - HGNC]
  • RNASEH2C:ribonuclease H2 subunit C [Gene - OMIM - HGNC]
  • SIPA1:signal-induced proliferation-associated 1 [Gene - OMIM - HGNC]
  • SLC25A45:solute carrier family 25 member 45 [Gene - OMIM - HGNC]
  • SLC29A2:solute carrier family 29 member 2 [Gene - OMIM - HGNC]
  • SNX32:sorting nexin 32 [Gene - HGNC]
  • SPDYC:speedy/RINGO cell cycle regulator family member C [Gene - OMIM - HGNC]
  • SART1:spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP [Gene - OMIM - HGNC]
  • SF3B2:splicing factor 3b subunit 2 [Gene - OMIM - HGNC]
  • TSGA10IP:testis specific 10 interacting protein [Gene - HGNC]
  • TIGD3:tigger transposable element derived 3 [Gene - OMIM - HGNC]
  • TMEM151A:transmembrane protein 151A [Gene - OMIM - HGNC]
  • ZDHHC24:zinc finger DHHC-type containing 24 [Gene - HGNC]
  • ZNRD2:zinc ribbon domain containing 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11q13.1-13.2
Genomic location:
Chr11: 64935724 - 66405514 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)
HGVS:
NC_000011.9:g.(?_64935724)_(66405514_?)del
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002319364ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)
Uncertain significance
(Mar 1, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002319364.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024