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GRCh37/hg19 5p15.33(chr5:113576-4325585)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 30, 2018
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:
RCV001005641.1

Allele description [Variation Report for GRCh37/hg19 5p15.33(chr5:113576-4325585)x1]

GRCh37/hg19 5p15.33(chr5:113576-4325585)x1

Genes:
  • CLPTM1L:CLPTM1 like [Gene - OMIM - HGNC]
  • EXOC3-AS1:EXOC3 antisense RNA 1 [Gene - 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]
  • AHRR:aryl hydrocarbon receptor repressor [Gene - OMIM - HGNC]
  • BRD9:bromodomain containing 9 [Gene - OMIM - HGNC]
  • CEP72:centrosomal protein 72 [Gene - OMIM - HGNC]
  • CCDC127:coiled-coil domain containing 127 [Gene - HGNC]
  • EXOC3:exocyst complex component 3 [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]
  • LPCAT1:lysophosphatidylcholine acyltransferase 1 [Gene - OMIM - HGNC]
  • MRPL36:mitochondrial ribosomal protein L36 [Gene - OMIM - HGNC]
  • PLEKHG4B:pleckstrin homology and RhoGEF domain containing G4B [Gene - HGNC]
  • PDCD6:programmed cell death 6 [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]
  • SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
  • TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
  • TRIP13:thyroid hormone receptor interactor 13 [Gene - OMIM - HGNC]
  • TPPP:tubulin polymerization promoting protein [Gene - OMIM - HGNC]
  • ZDHHC11:zinc finger DHHC-type containing 11 [Gene - HGNC]
  • ZDHHC11B:zinc finger DHHC-type containing 11B [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5p15.33
Genomic location:
Chr5: 113576 - 4325585 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5p15.33(chr5:113576-4325585)x1
HGVS:
NC_000005.9:g.(?_113576)_(4325585_?)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
SCV001165187Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Aug 30, 2018) 		germlineclinical testing

Help

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, SCV001165187.1

#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