GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000240426.2

Allele description [Variation Report for GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1]

GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1

Genes:
  • CCR4:C-C motif chemokine receptor 4 [Gene - OMIM - HGNC]
  • CNOT10:CCR4-NOT transcription complex subunit 10 [Gene - HGNC]
  • CMTM6:CKLF like MARVEL transmembrane domain containing 6 [Gene - OMIM - HGNC]
  • CMTM7:CKLF like MARVEL transmembrane domain containing 7 [Gene - OMIM - HGNC]
  • CMTM8:CKLF like MARVEL transmembrane domain containing 8 [Gene - OMIM - HGNC]
  • FBXL2:F-box and leucine rich repeat protein 2 [Gene - OMIM - HGNC]
  • RBMS3:RNA binding motif single stranded interacting protein 3 [Gene - OMIM - HGNC]
  • STT3B:STT3 oligosaccharyltransferase complex catalytic subunit B [Gene - OMIM - HGNC]
  • CRTAP:cartilage associated protein [Gene - OMIM - HGNC]
  • CLASP2:cytoplasmic linker associated protein 2 [Gene - OMIM - HGNC]
  • DYNC1LI1:dynein cytoplasmic 1 light intermediate chain 1 [Gene - OMIM - HGNC]
  • GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
  • GADL1:glutamate decarboxylase like 1 [Gene - OMIM - HGNC]
  • GPD1L:glycerol-3-phosphate dehydrogenase 1 like [Gene - OMIM - HGNC]
  • OSBPL10:oxysterol binding protein like 10 [Gene - OMIM - HGNC]
  • PDCD6IP:programmed cell death 6 interacting protein [Gene - OMIM - HGNC]
  • SUSD5:sushi domain containing 5 [Gene - OMIM - HGNC]
  • TGFBR2:transforming growth factor beta receptor 2 [Gene - OMIM - HGNC]
  • TMPPE:transmembrane protein with metallophosphoesterase domain [Gene - HGNC]
  • TRIM71:tripartite motif containing 71 [Gene - OMIM - HGNC]
  • UBP1:upstream binding protein 1 [Gene - OMIM - HGNC]
  • ZNF860:zinc finger protein 860 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3p24.1-22.3
Genomic location:
Chr3: 29689082 - 34233218 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1
HGVS:
NC_000003.11:g.(?_29689082)_(34233218_?)del

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000298589GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Jan 20, 2016)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000298589.3

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

Last Updated: Nov 5, 2022