GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2021
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:
RCV001834516.1

Allele description [Variation Report for GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1]

GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1

Genes:
  • BRINP1:BMP/retinoic acid inducible neural specific 1 [Gene - OMIM - HGNC]
  • CDK5RAP2:CDK5 regulatory subunit associated protein 2 [Gene - OMIM - HGNC]
  • DAB2IP:DAB2 interacting protein [Gene - OMIM - HGNC]
  • DENND1A:DENN domain containing 1A [Gene - OMIM - HGNC]
  • FBXW2:F-box and WD repeat domain containing 2 [Gene - OMIM - HGNC]
  • GPR21:G protein-coupled receptor 21 [Gene - OMIM - HGNC]
  • LHX2:LIM homeobox 2 [Gene - OMIM - HGNC]
  • LHX6:LIM homeobox 6 [Gene - OMIM - HGNC]
  • MORN5:MORN repeat containing 5 [Gene - OMIM - HGNC]
  • NDUFA8:NADH:ubiquinone oxidoreductase subunit A8 [Gene - OMIM - HGNC]
  • NEK6:NIMA related kinase 6 [Gene - OMIM - HGNC]
  • PHF19:PHD finger protein 19 [Gene - OMIM - HGNC]
  • RABGAP1:RAB GTPase activating protein 1 [Gene - OMIM - HGNC]
  • RAB14:RAB14, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBM18:RNA binding motif protein 18 [Gene - HGNC]
  • TRAF1:TNF receptor associated factor 1 [Gene - OMIM - HGNC]
  • ADGRD2:adhesion G protein-coupled receptor D2 [Gene - HGNC]
  • ASTN2:astrotactin 2 [Gene - OMIM - HGNC]
  • CNTRL:centriolin [Gene - OMIM - HGNC]
  • C5:complement C5 [Gene - OMIM - HGNC]
  • CRB2:crumbs cell polarity complex component 2 [Gene - OMIM - HGNC]
  • GSN:gelsolin [Gene - OMIM - HGNC]
  • MRRF:mitochondrial ribosome recycling factor [Gene - OMIM - HGNC]
  • MEGF9:multiple EGF like domains 9 [Gene - OMIM - HGNC]
  • NR5A1:nuclear receptor subfamily 5 group A member 1 [Gene - OMIM - HGNC]
  • NR6A1:nuclear receptor subfamily 6 group A member 1 [Gene - OMIM - HGNC]
  • OR1B1:olfactory receptor family 1 subfamily B member 1 [Gene - HGNC]
  • OR1J1:olfactory receptor family 1 subfamily J member 1 [Gene - HGNC]
  • OR1J2:olfactory receptor family 1 subfamily J member 2 [Gene - HGNC]
  • OR1J4:olfactory receptor family 1 subfamily J member 4 [Gene - HGNC]
  • OR1K1:olfactory receptor family 1 subfamily K member 1 [Gene - HGNC]
  • OR1L1:olfactory receptor family 1 subfamily L member 1 [Gene - HGNC]
  • OR1L3:olfactory receptor family 1 subfamily L member 3 [Gene - HGNC]
  • OR1L4:olfactory receptor family 1 subfamily L member 4 [Gene - HGNC]
  • OR1L6:olfactory receptor family 1 subfamily L member 6 [Gene - HGNC]
  • OR1L8:olfactory receptor family 1 subfamily L member 8 [Gene - HGNC]
  • OR1N1:olfactory receptor family 1 subfamily N member 1 [Gene - HGNC]
  • OR1N2:olfactory receptor family 1 subfamily N member 2 [Gene - HGNC]
  • OR1Q1:olfactory receptor family 1 subfamily Q member 1 [Gene - HGNC]
  • OR5C1:olfactory receptor family 5 subfamily C member 1 [Gene - HGNC]
  • PDCL:phosducin like [Gene - OMIM - HGNC]
  • PTGS1:prostaglandin-endoperoxide synthase 1 [Gene - OMIM - HGNC]
  • PSMB7:proteasome 20S subunit beta 7 [Gene - OMIM - HGNC]
  • PSMD5:proteasome 26S subunit, non-ATPase 5 [Gene - OMIM - HGNC]
  • RC3H2:ring finger and CCCH-type domains 2 [Gene - OMIM - HGNC]
  • STRBP:spermatid perinuclear RNA binding protein [Gene - OMIM - HGNC]
  • STOM:stomatin [Gene - OMIM - HGNC]
  • TLR4:toll like receptor 4 [Gene - OMIM - HGNC]
  • TTLL11:tubulin tyrosine ligase like 11 [Gene - HGNC]
  • ZBTB26:zinc finger and BTB domain containing 26 [Gene - OMIM - HGNC]
  • ZBTB6:zinc finger and BTB domain containing 6 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q33.1-33.3
Genomic location:
Chr9: 120045175 - 127335905 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1
HGVS:
NC_000009.11:g.(?_120045175)_(127335905_?)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
SCV002095826Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Mar 1, 2021) 		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, SCV002095826.1

#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