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GRCh37/hg19 13q34(chr13:111568865-115107733)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 26, 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:
RCV000846886.2

Allele description [Variation Report for GRCh37/hg19 13q34(chr13:111568865-115107733)x1]

GRCh37/hg19 13q34(chr13:111568865-115107733)x1

Genes:
  • ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - 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]
  • MCF2L:MCF.2 cell line derived transforming sequence like [Gene - OMIM - HGNC]
  • PCID2:PCI domain containing 2 [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]
  • UPF3A:UPF3A regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • CDC16:cell division cycle 16 [Gene - OMIM - HGNC]
  • CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
  • F7:coagulation factor VII [Gene - OMIM - HGNC]
  • F10:coagulation factor X [Gene - OMIM - HGNC]
  • CUL4A:cullin 4A [Gene - OMIM - HGNC]
  • DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
  • GAS6:growth arrest specific 6 [Gene - OMIM - HGNC]
  • GRTP1:growth hormone regulated TBC protein 1 [Gene - HGNC]
  • LAMP1:lysosomal associated membrane protein 1 [Gene - OMIM - HGNC]
  • PROZ:protein Z, vitamin K dependent plasma glycoprotein [Gene - OMIM - HGNC]
  • SPACA7:sperm acrosome associated 7 [Gene - HGNC]
  • TEX29:testis expressed 29 [Gene - HGNC]
  • TFDP1:transcription factor Dp-1 [Gene - OMIM - HGNC]
  • TMCO3:transmembrane and coiled-coil domains 3 [Gene - OMIM - HGNC]
  • TMEM255B:transmembrane protein 255B [Gene - HGNC]
  • TUBGCP3:tubulin gamma complex associated protein 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
13q34
Genomic location:
Chr13: 111568865 - 115107733 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q34(chr13:111568865-115107733)x1
HGVS:
NC_000013.10:g.(?_111568865)_(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
SCV000989008Bionano Laboratories
no assertion criteria provided
Pathogenic
(Oct 26, 2017)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Bionano Laboratories, SCV000989008.1

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

Last Updated: Dec 11, 2022