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GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 20, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000682515.1

Allele description [Variation Report for GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1]

GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1

Genes:
  • MTRR:5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Gene - OMIM - HGNC]
  • ADAMTS16:ADAM metallopeptidase with thrombospondin type 1 motif 16 [Gene - OMIM - HGNC]
  • ANKH:ANKH inorganic pyrophosphate transport regulator [Gene - OMIM - HGNC]
  • ATPSCKMT:ATP synthase c subunit lysine N-methyltransferase [Gene - OMIM - HGNC]
  • CLPTM1L:CLPTM1 like [Gene - OMIM - HGNC]
  • EXOC3-AS1:EXOC3 antisense RNA 1 [Gene - HGNC]
  • FBXL7:F-box and leucine rich repeat protein 7 [Gene - OMIM - HGNC]
  • FASTKD3:FAST kinase domains 3 [Gene - OMIM - HGNC]
  • IRX2-DT:IRX2 divergent transcript [Gene - OMIM - HGNC]
  • NDUFS6:NADH:ubiquinone oxidoreductase subunit S6 [Gene - OMIM - HGNC]
  • NKD2:NKD inhibitor of WNT signaling pathway 2 [Gene - OMIM - HGNC]
  • NSUN2:NOP2/Sun RNA methyltransferase 2 [Gene - OMIM - HGNC]
  • OTULINL:OTU deubiquitinase with linear linkage specificity like [Gene - HGNC]
  • OTULIN:OTU deubiquitinase with linear linkage specificity [Gene - OMIM - HGNC]
  • OTULIN-DT:OTULIN divergent transcript [Gene - HGNC]
  • ADCY2:adenylate cyclase 2 [Gene - OMIM - HGNC]
  • ANKRD33B:ankyrin repeat domain 33B [Gene - HGNC]
  • AHRR:aryl hydrocarbon receptor repressor [Gene - OMIM - HGNC]
  • BASP1:brain abundant membrane attached signal protein 1 [Gene - OMIM - HGNC]
  • BRD9:bromodomain containing 9 [Gene - OMIM - HGNC]
  • CMBL:carboxymethylenebutenolidase homolog [Gene - OMIM - HGNC]
  • CTNND2:catenin delta 2 [Gene - OMIM - HGNC]
  • CEP72:centrosomal protein 72 [Gene - OMIM - HGNC]
  • CCT5:chaperonin containing TCP1 subunit 5 [Gene - OMIM - HGNC]
  • CFAP90:cilia and flagella associated protein 90 [Gene - HGNC]
  • CCDC127:coiled-coil domain containing 127 [Gene - HGNC]
  • DAP:death associated protein [Gene - OMIM - HGNC]
  • DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
  • EXOC3:exocyst complex component 3 [Gene - OMIM - HGNC]
  • ICE1:interactor of little elongation complex ELL subunit 1 [Gene - OMIM - HGNC]
  • IRX1:iroquois homeobox 1 [Gene - OMIM - HGNC]
  • IRX2:iroquois homeobox 2 [Gene - OMIM - HGNC]
  • IRX4:iroquois homeobox 4 [Gene - OMIM - HGNC]
  • LRRC14B:leucine rich repeat containing 14B [Gene - HGNC]
  • LINC01194:long intergenic non-protein coding RNA 1194 [Gene - OMIM - HGNC]
  • LPCAT1:lysophosphatidylcholine acyltransferase 1 [Gene - OMIM - HGNC]
  • MED10:mediator complex subunit 10 [Gene - OMIM - HGNC]
  • MARCHF11:membrane associated ring-CH-type finger 11 [Gene - OMIM - HGNC]
  • MARCHF6:membrane associated ring-CH-type finger 6 [Gene - OMIM - HGNC]
  • MRPL36:mitochondrial ribosomal protein L36 [Gene - OMIM - HGNC]
  • MYO10:myosin X [Gene - OMIM - HGNC]
  • PLEKHG4B:pleckstrin homology and RhoGEF domain containing G4B [Gene - HGNC]
  • PDCD6:programmed cell death 6 [Gene - OMIM - HGNC]
  • RETREG1:reticulophagy regulator 1 [Gene - OMIM - HGNC]
  • ROPN1L:rhophilin associated tail protein 1 like [Gene - OMIM - HGNC]
  • SEMA5A:semaphorin 5A [Gene - OMIM - HGNC]
  • SLC12A7:solute carrier family 12 member 7 [Gene - OMIM - HGNC]
  • SLC6A18:solute carrier family 6 member 18 [Gene - OMIM - HGNC]
  • SLC6A19:solute carrier family 6 member 19 [Gene - OMIM - HGNC]
  • SLC6A3:solute carrier family 6 member 3 [Gene - OMIM - HGNC]
  • SLC9A3:solute carrier family 9 member A3 [Gene - OMIM - HGNC]
  • SRD5A1:steroid 5 alpha-reductase 1 [Gene - OMIM - HGNC]
  • SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
  • TAS2R1:taste 2 receptor member 1 [Gene - OMIM - HGNC]
  • TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
  • TENT4A:terminal nucleotidyltransferase 4A [Gene - OMIM - HGNC]
  • TRIP13:thyroid hormone receptor interactor 13 [Gene - OMIM - HGNC]
  • TRIO:trio Rho guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • TPPP:tubulin polymerization promoting protein [Gene - OMIM - HGNC]
  • UBE2QL1:ubiquitin conjugating enzyme E2 Q family like 1 [Gene - OMIM - HGNC]
  • ZDHHC11:zinc finger DHHC-type containing 11 [Gene - HGNC]
  • ZDHHC11B:zinc finger DHHC-type containing 11B [Gene - HGNC]
  • ZNF622:zinc finger protein 622 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5p15.33-14.3
Genomic location:
Chr5: 113576 - 19167699 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1
HGVS:
NC_000005.9:g.(?_113576)_(19167699_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000810022Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Oct 20, 2017)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000810022.1

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

Last Updated: Mar 26, 2023