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NC_000010.10:g.43611191_61663279inv AND Pediatric metastatic thyroid tumour

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 19, 2018
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:
RCV000585841.1

Allele description [Variation Report for NC_000010.10:g.43611191_61663279inv]

NC_000010.10:g.43611191_61663279inv

Genes:
  • A1CF:APOBEC1 complementation factor [Gene - OMIM - HGNC]
  • AGAP10:ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 [Gene]
  • AGAP4:ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 [Gene - HGNC]
  • AGAP6:ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 [Gene - HGNC]
  • AGAP9:ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 [Gene - HGNC]
  • BICC1:BicC family RNA binding protein 1 [Gene - OMIM - HGNC]
  • CXCL12:C-X-C motif chemokine ligand 12 [Gene - OMIM - HGNC]
  • CISD1:CDGSH iron sulfur domain 1 [Gene - OMIM - HGNC]
  • DEPP1:DEPP autophagy regulator 1 [Gene - OMIM - HGNC]
  • ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
  • FRMPD2:FERM and PDZ domain containing 2 [Gene - OMIM - HGNC]
  • FXYD4:FXYD domain containing ion transport regulator 4 [Gene - OMIM - HGNC]
  • GPRIN2:G protein regulated inducer of neurite outgrowth 2 [Gene - OMIM - HGNC]
  • MTRNR2L5:MT-RNR2 like 5 [Gene - HGNC]
  • ASAH2:N-acylsphingosine amidohydrolase 2 [Gene - OMIM - HGNC]
  • ASAH2B:N-acylsphingosine amidohydrolase 2B [Gene - OMIM - HGNC]
  • RASSF4:Ras association domain family member 4 [Gene - OMIM - HGNC]
  • RASGEF1A:RasGEF domain family member 1A [Gene - OMIM - HGNC]
  • ARHGAP22:Rho GTPase activating protein 22 [Gene - OMIM - HGNC]
  • VSTM4:V-set and transmembrane domain containing 4 [Gene - HGNC]
  • WASHC2A:WASH complex subunit 2A [Gene - HGNC]
  • WASHC2C:WASH complex subunit 2C [Gene - OMIM - HGNC]
  • WDFY4:WDFY family member 4 [Gene - OMIM - HGNC]
  • ZNF22-AS1:ZNF22 antisense RNA 1 [Gene - HGNC]
  • ZWINT:ZW10 interacting kinetochore protein [Gene - OMIM - HGNC]
  • ANXA8L1:annexin A8 like 1 [Gene - HGNC]
  • ANXA8:annexin A8 [Gene - OMIM - HGNC]
  • ALOX5:arachidonate 5-lipoxygenase [Gene - OMIM - HGNC]
  • CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
  • CSGALNACT2:chondroitin sulfate N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • C10orf53:chromosome 10 open reading frame 53 [Gene - HGNC]
  • C10orf71:chromosome 10 open reading frame 71 [Gene - HGNC]
  • CSTF2T:cleavage stimulation factor subunit 2 tau variant [Gene - OMIM - HGNC]
  • CCDC6:coiled-coil domain containing 6 [Gene - OMIM - HGNC]
  • DKK1:dickkopf WNT signaling pathway inhibitor 1 [Gene - OMIM - HGNC]
  • DRGX:dorsal root ganglia homeobox [Gene - OMIM - HGNC]
  • FAM13C:family with sequence similarity 13 member C [Gene - HGNC]
  • FAM170B:family with sequence similarity 170 member B [Gene - HGNC]
  • FAM25C:family with sequence similarity 25 member C [Gene - HGNC]
  • FAM25E:family with sequence similarity 25 member E [Gene - HGNC]
  • FAM25G:family with sequence similarity 25 member G [Gene - HGNC]
  • GDF10:growth differentiation factor 10 [Gene - OMIM - HGNC]
  • GDF2:growth differentiation factor 2 [Gene - OMIM - HGNC]
  • HNRNPF:heterogeneous nuclear ribonucleoprotein F [Gene - OMIM - HGNC]
  • IPMK:inositol polyphosphate multikinase [Gene - OMIM - HGNC]
  • LRRC18:leucine rich repeat containing 18 [Gene - OMIM - HGNC]
  • MBL2:mannose binding lectin 2 [Gene - OMIM - HGNC]
  • MARCHF8:membrane associated ring-CH-type finger 8 [Gene - OMIM - HGNC]
  • MSMB:microseminoprotein beta [Gene - OMIM - HGNC]
  • MAPK8:mitogen-activated protein kinase 8 [Gene - OMIM - HGNC]
  • NPY4R:neuropeptide Y receptor Y4 [Gene - OMIM - HGNC]
  • NCOA4:nuclear receptor coactivator 4 [Gene - OMIM - HGNC]
  • OR13A1:olfactory receptor family 13 subfamily A member 1 [Gene - HGNC]
  • OGDHL:oxoglutarate dehydrogenase L [Gene - OMIM - HGNC]
  • PHYHIPL:phytanoyl-CoA 2-hydroxylase interacting protein like [Gene - HGNC]
  • PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]
  • PARG:poly(ADP-ribose) glycohydrolase [Gene - OMIM - HGNC]
  • PRKG1:protein kinase cGMP-dependent 1 [Gene - OMIM - HGNC]
  • PTPN20:protein tyrosine phosphatase non-receptor type 20 [Gene - OMIM - HGNC]
  • PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
  • RET:ret proto-oncogene [Gene - OMIM - HGNC]
  • RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]
  • SLC16A9:solute carrier family 16 member 9 [Gene - OMIM - HGNC]
  • SLC18A3:solute carrier family 18 member A3 [Gene - OMIM - HGNC]
  • SGMS1:sphingomyelin synthase 1 [Gene - OMIM - HGNC]
  • SYT15:synaptotagmin 15 [Gene - OMIM - HGNC]
  • TFAM:transcription factor A, mitochondrial [Gene - OMIM - HGNC]
  • TIMM23:translocase of inner mitochondrial membrane 23 [Gene - OMIM - HGNC]
  • TMEM273:transmembrane protein 273 [Gene - HGNC]
  • TMEM72:transmembrane protein 72 [Gene - HGNC]
  • UBE2D1:ubiquitin conjugating enzyme E2 D1 [Gene - OMIM - HGNC]
  • ZFAND4:zinc finger AN1-type containing 4 [Gene - HGNC]
  • ZNF22:zinc finger protein 22 [Gene - OMIM - HGNC]
  • ZNF239:zinc finger protein 239 [Gene - OMIM - HGNC]
  • ZNF32:zinc finger protein 32 [Gene - OMIM - HGNC]
  • ZNF485:zinc finger protein 485 [Gene - HGNC]
  • ZNF488:zinc finger protein 488 [Gene - HGNC]
Variant type:
Inversion
Cytogenetic location:
10q11.21-21.2
Genomic location:
Chr10: 43611191 - 61663279 (on Assembly GRCh37)
Preferred name:
NC_000010.10:g.43611191_61663279inv
HGVS:
NC_000010.10:g.43611191_61663279inv

Condition(s)

Name:
Pediatric metastatic thyroid tumour
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000693716Genome Sciences Centre, British Columbia Cancer Agency
no assertion criteria provided
Likely pathogenic
(Jan 19, 2018) 		somaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnonot providednot providednot providednot providednot providedresearch

Details of each submission

From Genome Sciences Centre, British Columbia Cancer Agency, SCV000693716.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023