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GRCh37/hg19 2q35(chr2:218210665-220141650) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2022
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:
RCV002053284.3

Allele description [Variation Report for GRCh37/hg19 2q35(chr2:218210665-220141650)]

GRCh37/hg19 2q35(chr2:218210665-220141650)

Genes:
  • ABCB6:ATP binding cassette subfamily B member 6 (Langereis blood group) [Gene - OMIM - HGNC]
  • BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
  • CXCR1:C-X-C motif chemokine receptor 1 [Gene - OMIM - HGNC]
  • CXCR2:C-X-C motif chemokine receptor 2 [Gene - OMIM - HGNC]
  • CNOT9:CCR4-NOT transcription complex subunit 9 [Gene - OMIM - HGNC]
  • CTDSP1:CTD small phosphatase 1 [Gene - OMIM - HGNC]
  • FEV:FEV transcription factor, ETS family member [Gene - OMIM - HGNC]
  • GPBAR1:G protein-coupled bile acid receptor 1 [Gene - OMIM - HGNC]
  • IHH:Indian hedgehog signaling molecule [Gene - OMIM - HGNC]
  • PNKD:PNKD metallo-beta-lactamase domain containing [Gene - OMIM - HGNC]
  • RUFY4:RUN and FYVE domain containing 4 [Gene - HGNC]
  • WNT10A:Wnt family member 10A [Gene - OMIM - HGNC]
  • WNT6:Wnt family member 6 [Gene - OMIM - HGNC]
  • ARPC2:actin related protein 2/3 complex subunit 2 [Gene - OMIM - HGNC]
  • AAMP:angio associated migratory cell protein [Gene - OMIM - HGNC]
  • ANKZF1:ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 [Gene - OMIM - HGNC]
  • ATG9A:autophagy related 9A [Gene - OMIM - HGNC]
  • CFAP65:cilia and flagella associated protein 65 [Gene - OMIM - HGNC]
  • CATIP:ciliogenesis associated TTC17 interacting protein [Gene - OMIM - HGNC]
  • CRYBA2:crystallin beta A2 [Gene - OMIM - HGNC]
  • CNPPD1:cyclin Pas1/PHO80 domain containing 1 [Gene - HGNC]
  • CDK5R2:cyclin dependent kinase 5 regulatory subunit 2 [Gene - OMIM - HGNC]
  • CYP27A1:cytochrome P450 family 27 subfamily A member 1 [Gene - OMIM - HGNC]
  • DIRC3:disrupted in renal carcinoma 3 [Gene - OMIM - HGNC]
  • GLB1L:galactosidase beta 1 like [Gene - HGNC]
  • MIR26B:microRNA 26b [Gene - OMIM - HGNC]
  • MIR375:microRNA 375 [Gene - OMIM - HGNC]
  • NHEJ1:non-homologous end joining factor 1 [Gene - OMIM - HGNC]
  • PLCD4:phospholipase C delta 4 [Gene - OMIM - HGNC]
  • PRKAG3:protein kinase AMP-activated non-catalytic subunit gamma 3 [Gene - OMIM - HGNC]
  • RETREG2:reticulophagy regulator family member 2 [Gene - HGNC]
  • RNF25:ring finger protein 25 [Gene - OMIM - HGNC]
  • STK16:serine/threonine kinase 16 [Gene - OMIM - HGNC]
  • STK36:serine/threonine kinase 36 [Gene - OMIM - HGNC]
  • SLC11A1:solute carrier family 11 member 1 [Gene - OMIM - HGNC]
  • SLC23A3:solute carrier family 23 member 3 [Gene - OMIM - HGNC]
  • TNS1:tensin 1 [Gene - OMIM - HGNC]
  • TMBIM1:transmembrane BAX inhibitor motif containing 1 [Gene - OMIM - HGNC]
  • TUBA4A:tubulin alpha 4a [Gene - OMIM - HGNC]
  • TTLL4:tubulin tyrosine ligase like 4 [Gene - OMIM - HGNC]
  • USP37:ubiquitin specific peptidase 37 [Gene - OMIM - HGNC]
  • VIL1:villin 1 [Gene - OMIM - HGNC]
  • ZFAND2B:zinc finger AN1-type containing 2B [Gene - OMIM - HGNC]
  • ZNF142:zinc finger protein 142 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q35
Genomic location:
Chr2: 218210665 - 220141650 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q35(chr2:218210665-220141650)
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002320080ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)
Uncertain significance
(Mar 1, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002320080.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023