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GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) AND not specified

Germline classification:
Pathogenic (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:
RCV002052895.3

Allele description [Variation Report for GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)]

GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)

Genes:
  • ADAM12:ADAM metallopeptidase domain 12 [Gene - OMIM - HGNC]
  • ADAM8:ADAM metallopeptidase domain 8 [Gene - OMIM - HGNC]
  • BNIP3:BCL2 interacting protein 3 [Gene - OMIM - HGNC]
  • BCCIP:BRCA2 and CDKN1A interacting protein [Gene - OMIM - HGNC]
  • BTBD16:BTB domain containing 16 [Gene - HGNC]
  • BUB3:BUB3 mitotic checkpoint protein [Gene - OMIM - HGNC]
  • CTBP2:C-terminal binding protein 2 [Gene - OMIM - HGNC]
  • CUZD1:CUB and zona pellucida like domains 1 [Gene - OMIM - HGNC]
  • DHX32:DEAH-box helicase 32 (putative) [Gene - OMIM - HGNC]
  • EBF3:EBF transcription factor 3 [Gene - OMIM - HGNC]
  • EEF1AKMT2:EEF1A lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • GPR26:G protein-coupled receptor 26 [Gene - OMIM - HGNC]
  • HMX2:H6 family homeobox 2 [Gene - OMIM - HGNC]
  • HMX3:H6 family homeobox 3 [Gene - OMIM - HGNC]
  • HTRA1:HtrA serine peptidase 1 [Gene - OMIM - HGNC]
  • IKZF5:IKAROS family zinc finger 5 [Gene - OMIM - HGNC]
  • JAKMIP3:Janus kinase and microtubule interacting protein 3 [Gene - OMIM - HGNC]
  • NKX1-2:NK1 homeobox 2 [Gene - HGNC]
  • NKX6-2:NK6 homeobox 2 [Gene - OMIM - HGNC]
  • NSMCE4A:NSE4 homolog A, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
  • MGMT:O-6-methylguanine-DNA methyltransferase [Gene - OMIM - HGNC]
  • PWWP2B:PWWP domain containing 2B [Gene - HGNC]
  • TCERG1L-AS1:TCERG1L antisense RNA 1 [Gene - HGNC]
  • VENTX:VENT homeobox [Gene - OMIM - HGNC]
  • WDR11:WD repeat domain 11 [Gene - OMIM - HGNC]
  • ABRAXAS2:abraxas 2, BRISC complex subunit [Gene - OMIM - HGNC]
  • ACADSB:acyl-CoA dehydrogenase short/branched chain [Gene - OMIM - HGNC]
  • ADGRA1:adhesion G protein-coupled receptor A1 [Gene - OMIM - HGNC]
  • ARMS2:age-related maculopathy susceptibility 2 [Gene - OMIM - HGNC]
  • ATE1:arginyltransferase 1 [Gene - OMIM - HGNC]
  • CALY:calcyon neuron specific vesicular protein [Gene - OMIM - HGNC]
  • CHST15:carbohydrate sulfotransferase 15 [Gene - OMIM - HGNC]
  • CPXM2:carboxypeptidase X, M14 family member 2 [Gene - OMIM - HGNC]
  • C10orf120:chromosome 10 open reading frame 120 [Gene - HGNC]
  • C10orf88:chromosome 10 open reading frame 88 [Gene - HGNC]
  • C10orf90:chromosome 10 open reading frame 90 [Gene - OMIM - HGNC]
  • CFAP46:cilia and flagella associated protein 46 [Gene - OMIM - HGNC]
  • CLRN3:clarin 3 [Gene - OMIM - HGNC]
  • CYP2E1:cytochrome P450 family 2 subfamily E member 1 [Gene - OMIM - HGNC]
  • DOCK1:dedicator of cytokinesis 1 [Gene - OMIM - HGNC]
  • DMBT1:deleted in malignant brain tumors 1 [Gene - OMIM - HGNC]
  • DPYSL4:dihydropyrimidinase like 4 [Gene - OMIM - HGNC]
  • ECHS1:enoyl-CoA hydratase, short chain 1 [Gene - OMIM - HGNC]
  • EDRF1:erythroid differentiation regulatory factor 1 [Gene - HGNC]
  • FAM24A:family with sequence similarity 24 member A [Gene - HGNC]
  • FAM24B:family with sequence similarity 24 member B [Gene - HGNC]
  • FAM53B:family with sequence similarity 53 member B [Gene - OMIM - HGNC]
  • FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]
  • FANK1:fibronectin type III and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
  • FOXI2:forkhead box I2 [Gene - OMIM - HGNC]
  • FUOM:fucose mutarotase [Gene - OMIM - HGNC]
  • GLRX3:glutaredoxin 3 [Gene - OMIM - HGNC]
  • INSYN2A:inhibitory synaptic factor 2A [Gene - OMIM - HGNC]
  • INPP5A:inositol polyphosphate-5-phosphatase A [Gene - OMIM - HGNC]
  • KNDC1:kinase non-catalytic C-lobe domain containing 1 [Gene - OMIM - HGNC]
  • LRRC27:leucine rich repeat containing 27 [Gene - HGNC]
  • LINC01166:long intergenic non-protein coding RNA 1166 [Gene - HGNC]
  • LINC02870:long intergenic non-protein coding RNA 2870 [Gene - HGNC]
  • MKI67:marker of proliferation Ki-67 [Gene - OMIM - HGNC]
  • MMP21:matrix metallopeptidase 21 [Gene - OMIM - HGNC]
  • MTG1:mitochondrial ribosome associated GTPase 1 [Gene - HGNC]
  • NPS:neuropeptide S [Gene - OMIM - HGNC]
  • OAT:ornithine aminotransferase [Gene - OMIM - HGNC]
  • PLPP4:phospholipid phosphatase 4 [Gene - HGNC]
  • LHPP:phospholysine phosphohistidine inorganic pyrophosphate phosphatase [Gene - OMIM - HGNC]
  • PSTK:phosphoseryl-tRNA kinase [Gene - OMIM - HGNC]
  • PLEKHA1:pleckstrin homology domain containing A1 [Gene - OMIM - HGNC]
  • PAOX:polyamine oxidase [Gene - OMIM - HGNC]
  • PRAP1:proline rich acidic protein 1 [Gene - OMIM - HGNC]
  • PPP2R2D:protein phosphatase 2 regulatory subunit Bdelta [Gene - OMIM - HGNC]
  • PTPRE:protein tyrosine phosphatase receptor type E [Gene - OMIM - HGNC]
  • STK32C:serine/threonine kinase 32C [Gene - HGNC]
  • SPRN:shadow of prion protein [Gene - OMIM - HGNC]
  • SYCE1:synaptonemal complex central element protein 1 [Gene - OMIM - HGNC]
  • TEX36:testis expressed 36 [Gene - HGNC]
  • TCERG1L:transcription elongation regulator 1 like [Gene - HGNC]
  • TACC2:transforming acidic coiled-coil containing protein 2 [Gene - OMIM - HGNC]
  • TUBGCP2:tubulin gamma complex associated protein 2 [Gene - OMIM - HGNC]
  • UTF1:undifferentiated embryonic cell transcription factor 1 [Gene - OMIM - HGNC]
  • UROS:uroporphyrinogen III synthase [Gene - OMIM - HGNC]
  • ZRANB1:zinc finger RANBP2-type containing 1 [Gene - OMIM - HGNC]
  • ZNF511:zinc finger protein 511 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
10q26.12-26.3
Genomic location:
Chr10: 122343861 - 135427143 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)
HGVS:
NC_000010.10:g.(?_122343861)_(135427143_?)del
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
SCV002319329ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)
Pathogenic
(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, SCV002319329.1

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

Last Updated: Mar 26, 2023