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GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 21, 2019
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:
RCV001006591.1

Allele description [Variation Report for GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1]

GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1

Genes:
  • ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - HGNC]
  • ANKRD10-IT1:ANKRD10 intronic transcript 1 [Gene - HGNC]
  • ATP11AUN:ATP11A upstream neighbor lncRNA [Gene - HGNC]
  • ATP4B:ATPase H+/K+ transporting subunit beta [Gene - OMIM - HGNC]
  • ATP11A:ATPase phospholipid transporting 11A [Gene - OMIM - HGNC]
  • BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
  • DAOA:D-amino acid oxidase activator [Gene - OMIM - HGNC]
  • DAOA-AS1:DAOA antisense RNA 1 [Gene - OMIM - HGNC]
  • LIG4:DNA ligase 4 [Gene - OMIM - HGNC]
  • ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]
  • FARP1:FERM, ARH/RhoGEF and pleckstrin domain protein 1 [Gene - OMIM - HGNC]
  • GPR183:G protein-coupled receptor 183 [Gene - OMIM - HGNC]
  • GPR18:G protein-coupled receptor 18 [Gene - OMIM - HGNC]
  • MCF2L:MCF.2 cell line derived transforming sequence like [Gene - OMIM - HGNC]
  • NAXD:NAD(P)HX dehydratase [Gene - OMIM - HGNC]
  • NALF1:NALCN channel auxiliary factor 1 [Gene - OMIM - HGNC]
  • PCID2:PCI domain containing 2 [Gene - OMIM - HGNC]
  • RAB20:RAB20, member RAS oncogene family [Gene - HGNC]
  • RAP2A:RAP2A, member of RAS oncogene family [Gene - OMIM - HGNC]
  • RASA3:RAS p21 protein activator 3 [Gene - OMIM - HGNC]
  • ARHGEF7:Rho guanine nucleotide exchange factor 7 [Gene - OMIM - HGNC]
  • SOX1:SRY-box transcription factor 1 [Gene - OMIM - HGNC]
  • SWINGN:SWI/SNF complex interacting GAS6 enhancer non-coding RNA [Gene - HGNC]
  • TNFSF13B:TNF superfamily member 13b [Gene - OMIM - HGNC]
  • UBAC2:UBA domain containing 2 [Gene - HGNC]
  • UPF3A:UPF3A regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • ZIC2:Zic family member 2 [Gene - OMIM - HGNC]
  • ZIC5:Zic family member 5 [Gene - OMIM - HGNC]
  • ABHD13:abhydrolase domain containing 13 [Gene - HGNC]
  • ANKRD10:ankyrin repeat domain 10 [Gene - HGNC]
  • ARGLU1:arginine and glutamate rich 1 [Gene - OMIM - HGNC]
  • BIVM:basic, immunoglobulin-like variable motif containing [Gene - OMIM - HGNC]
  • CDC16:cell division cycle 16 [Gene - OMIM - HGNC]
  • CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
  • CLYBL:citramalyl-CoA lyase [Gene - OMIM - HGNC]
  • F7:coagulation factor VII [Gene - OMIM - HGNC]
  • F10:coagulation factor X [Gene - OMIM - HGNC]
  • CCDC168:coiled-coil domain containing 168 [Gene - HGNC]
  • COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]
  • COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
  • CUL4A:cullin 4A [Gene - OMIM - HGNC]
  • CARS2:cysteinyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • DOCK9:dedicator of cytokinesis 9 [Gene - OMIM - HGNC]
  • DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
  • EFNB2:ephrin B2 [Gene - OMIM - HGNC]
  • FGF14:fibroblast growth factor 14 [Gene - OMIM - HGNC]
  • GGACT:gamma-glutamylamine cyclotransferase [Gene - OMIM - HGNC]
  • GAS6:growth arrest specific 6 [Gene - OMIM - HGNC]
  • GRTP1:growth hormone regulated TBC protein 1 [Gene - HGNC]
  • HS6ST3:heparan sulfate 6-O-sulfotransferase 3 [Gene - OMIM - HGNC]
  • IPO5:importin 5 [Gene - OMIM - HGNC]
  • ING1:inhibitor of growth family member 1 [Gene - OMIM - HGNC]
  • IRS2:insulin receptor substrate 2 [Gene - OMIM - HGNC]
  • ITGBL1:integrin subunit beta like 1 [Gene - OMIM - HGNC]
  • LINC00567:long intergenic non-protein coding RNA 567 [Gene - HGNC]
  • LAMP1:lysosomal associated membrane protein 1 [Gene - OMIM - HGNC]
  • METTL21C:methyltransferase 21C, AARS1 lysine [Gene - OMIM - HGNC]
  • MBNL2:muscleblind like splicing regulator 2 [Gene - OMIM - HGNC]
  • MYO16:myosin XVI [Gene - OMIM - HGNC]
  • OXGR1:oxoglutarate receptor 1 [Gene - OMIM - HGNC]
  • PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
  • POGLUT2:protein O-glucosyltransferase 2 [Gene - OMIM - HGNC]
  • PROZ:protein Z, vitamin K dependent plasma glycoprotein [Gene - OMIM - HGNC]
  • RNF113B:ring finger protein 113B [Gene - HGNC]
  • STK24:serine/threonine kinase 24 [Gene - OMIM - HGNC]
  • NALCN:sodium leak channel, non-selective [Gene - OMIM - HGNC]
  • SLC10A2:solute carrier family 10 member 2 [Gene - OMIM - HGNC]
  • SLC15A1:solute carrier family 15 member 1 [Gene - OMIM - HGNC]
  • SPACA7:sperm acrosome associated 7 [Gene - HGNC]
  • TEX29:testis expressed 29 [Gene - HGNC]
  • TEX30:testis expressed 30 [Gene - HGNC]
  • TFDP1:transcription factor Dp-1 [Gene - OMIM - HGNC]
  • TM9SF2:transmembrane 9 superfamily member 2 [Gene - OMIM - HGNC]
  • TMTC4:transmembrane O-mannosyltransferase targeting cadherins 4 [Gene - OMIM - HGNC]
  • TMCO3:transmembrane and coiled-coil domains 3 [Gene - OMIM - HGNC]
  • TMEM255B:transmembrane protein 255B [Gene - HGNC]
  • TPP2:tripeptidyl peptidase 2 [Gene - OMIM - HGNC]
  • TUBGCP3:tubulin gamma complex associated protein 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
13q32.1-34
Genomic location:
Chr13: 96895656 - 115107733 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1
HGVS:
NC_000013.10:g.(?_96895656)_(115107733_?)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
SCV001166149Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Mar 21, 2019)
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, SCV001166149.1

#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