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Single allele AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000844961.1

Allele description [Variation Report for Single allele]

Genes:
  • ECSIT:ECSIT signaling integrator [Gene - OMIM - HGNC]
  • ELAVL3:ELAV like RNA binding protein 3 [Gene - OMIM - HGNC]
  • FBXW9:F-box and WD repeat domain containing 9 [Gene - OMIM - HGNC]
  • KANK2:KN motif and ankyrin repeat domains 2 [Gene - OMIM - HGNC]
  • KRI1:KRI1 homolog [Gene - HGNC]
  • RAB3D:RAB3D, member RAS oncogene family [Gene - OMIM - HGNC]
  • SPC24:SPC24 component of NDC80 kinetochore complex [Gene - OMIM - HGNC]
  • SMARCA4:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 [Gene - OMIM - HGNC]
  • SWSAP1:SWIM-type zinc finger 7 associated protein 1 [Gene - OMIM - HGNC]
  • WDR83OS:WD repeat domain 83 opposite strand [Gene - OMIM - HGNC]
  • WDR83:WD repeat domain 83 [Gene - OMIM - HGNC]
  • YIPF2:Yip1 domain family member 2 [Gene - OMIM - HGNC]
  • ACP5:acid phosphatase 5, tartrate resistant [Gene - OMIM - HGNC]
  • AP1M2:adaptor related protein complex 1 subunit mu 2 [Gene - OMIM - HGNC]
  • ANGPTL8:angiopoietin like 8 [Gene - OMIM - HGNC]
  • ATG4D:autophagy related 4D cysteine peptidase [Gene - OMIM - HGNC]
  • CNN1:calponin 1 [Gene - OMIM - HGNC]
  • C19orf38:chromosome 19 open reading frame 38 [Gene - HGNC]
  • CARM1:coactivator associated arginine methyltransferase 1 [Gene - OMIM - HGNC]
  • CCDC159:coiled-coil domain containing 159 [Gene - HGNC]
  • CDKN2D:cyclin dependent kinase inhibitor 2D [Gene - OMIM - HGNC]
  • DOCK6:dedicator of cytokinesis 6 [Gene - OMIM - HGNC]
  • DHPS:deoxyhypusine synthase [Gene - OMIM - HGNC]
  • DNM2:dynamin 2 [Gene - OMIM - HGNC]
  • ELOF1:elongation factor 1 [Gene - OMIM - HGNC]
  • EPOR:erythropoietin receptor [Gene - OMIM - HGNC]
  • ILF3:interleukin enhancer binding factor 3 [Gene - OMIM - HGNC]
  • LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
  • MAN2B1:mannosidase alpha class 2B member 1 [Gene - OMIM - HGNC]
  • MIR199A1:microRNA 199a-1 [Gene - OMIM - HGNC]
  • ODAD3:outer dynein arm docking complex subunit 3 [Gene - OMIM - HGNC]
  • PRKCSH:protein kinase C substrate 80K-H [Gene - OMIM - HGNC]
  • QTRT1:queuine tRNA-ribosyltransferase catalytic subunit 1 [Gene - OMIM - HGNC]
  • RGL3:ral guanine nucleotide dissociation stimulator like 3 [Gene - OMIM - HGNC]
  • SLC44A2:solute carrier family 44 member 2 [Gene - OMIM - HGNC]
  • TSPAN16:tetraspanin 16 [Gene - OMIM - HGNC]
  • TIMM29:translocase of inner mitochondrial membrane 29 [Gene - OMIM - HGNC]
  • TMED1:transmembrane p24 trafficking protein 1 [Gene - OMIM - HGNC]
  • TMEM205:transmembrane protein 205 [Gene - OMIM - HGNC]
  • TNPO2:transportin 2 [Gene - OMIM - HGNC]
  • ZNF136:zinc finger protein 136 [Gene - OMIM - HGNC]
  • ZNF20:zinc finger protein 20 [Gene - OMIM - HGNC]
  • ZNF433:zinc finger protein 433 [Gene - HGNC]
  • ZNF439:zinc finger protein 439 [Gene - HGNC]
  • ZNF440:zinc finger protein 440 [Gene - HGNC]
  • ZNF441:zinc finger protein 441 [Gene - HGNC]
  • ZNF442:zinc finger protein 442 [Gene - HGNC]
  • ZNF443:zinc finger protein 443 [Gene - OMIM - HGNC]
  • ZNF44:zinc finger protein 44 [Gene - OMIM - HGNC]
  • ZNF490:zinc finger protein 490 [Gene - HGNC]
  • ZNF491:zinc finger protein 491 [Gene - HGNC]
  • ZNF563:zinc finger protein 563 [Gene - HGNC]
  • ZNF564:zinc finger protein 564 [Gene - HGNC]
  • ZNF625:zinc finger protein 625 [Gene - HGNC]
  • ZNF627:zinc finger protein 627 [Gene - OMIM - HGNC]
  • ZNF653:zinc finger protein 653 [Gene - OMIM - HGNC]
  • ZNF69:zinc finger protein 69 [Gene - OMIM - HGNC]
  • ZNF700:zinc finger protein 700 [Gene - HGNC]
  • ZNF709:zinc finger protein 709 [Gene - HGNC]
  • ZNF763:zinc finger protein 763 [Gene - HGNC]
  • ZNF791:zinc finger protein 791 [Gene - HGNC]
  • ZNF799:zinc finger protein 799 [Gene - OMIM - HGNC]
  • ZNF823:zinc finger protein 823 [Gene - HGNC]
  • ZNF844:zinc finger protein 844 [Gene - HGNC]
  • ZNF878:zinc finger protein 878 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.2
Genomic location:
Chr19: 10642984 - 12810067 (on Assembly GRCh37)
HGVS:
NC_000019.9:g.(?_10642984)_(12810067_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986786GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986786.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as pathogenic and reported on 05/09/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022