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GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 16, 2019
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:
RCV001005874.1

Allele description [Variation Report for GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1]

GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1

Genes:
  • CCR6:C-C motif chemokine receptor 6 [Gene - OMIM - HGNC]
  • ERMARD:ER membrane associated RNA degradation [Gene - OMIM - HGNC]
  • FRMD1:FERM domain containing 1 [Gene - HGNC]
  • GPR31:G protein-coupled receptor 31 [Gene - OMIM - HGNC]
  • PHF10:PHD finger protein 10 [Gene - OMIM - HGNC]
  • QKI:QKI, KH domain containing RNA binding [Gene - OMIM - HGNC]
  • SFT2D1:SFT2 domain containing 1 [Gene - HGNC]
  • SMOC2:SPARC related modular calcium binding 2 [Gene - OMIM - HGNC]
  • TBXT:T-box transcription factor T [Gene - OMIM - HGNC]
  • TBP:TATA-box binding protein [Gene - OMIM - HGNC]
  • WDR27:WD repeat domain 27 [Gene - HGNC]
  • AFDN:afadin, adherens junction formation factor [Gene - OMIM - HGNC]
  • CEP43:centrosomal protein 43 [Gene - OMIM - HGNC]
  • C6orf118:chromosome 6 open reading frame 118 [Gene - HGNC]
  • C6orf120:chromosome 6 open reading frame 120 [Gene - OMIM - HGNC]
  • DLL1:delta like canonical Notch ligand 1 [Gene - OMIM - HGNC]
  • DACT2:dishevelled binding antagonist of beta catenin 2 [Gene - OMIM - HGNC]
  • DYNLT2:dynein light chain Tctex-type 2 [Gene - OMIM - HGNC]
  • FAM120B:family with sequence similarity 120B [Gene - OMIM - HGNC]
  • KIF25:kinesin family member 25 [Gene - OMIM - HGNC]
  • LINC02487:long intergenic non-protein coding RNA 2487 [Gene - HGNC]
  • MPC1:mitochondrial pyruvate carrier 1 [Gene - OMIM - HGNC]
  • PRKN:parkin RBR E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • PACRG:parkin coregulated [Gene - OMIM - HGNC]
  • PDE10A:phosphodiesterase 10A [Gene - OMIM - HGNC]
  • PDCD2:programmed cell death 2 [Gene - OMIM - HGNC]
  • PRR18:proline rich 18 [Gene - HGNC]
  • PSMB1:proteasome 20S subunit beta 1 [Gene - OMIM - HGNC]
  • RNASET2:ribonuclease T2 [Gene - OMIM - HGNC]
  • RPS6KA2:ribosomal protein S6 kinase A2 [Gene - OMIM - HGNC]
  • SDIM1:stress responsive DNAJB4 interacting membrane protein 1 [Gene - HGNC]
  • THBS2:thrombospondin 2 [Gene - OMIM - HGNC]
  • TTLL2:tubulin tyrosine ligase like 2 [Gene - HGNC]
  • UNC93A:unc-93 homolog A [Gene - OMIM - HGNC]
  • LOC729681:uncharacterized LOC729681 [Gene]
Variant type:
copy number loss
Cytogenetic location:
6q26-27
Genomic location:
Chr6: 162452035 - 170919482 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1
HGVS:
NC_000006.11:g.(?_162452035)_(170919482_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001165432Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Apr 16, 2019)
germlineclinical testing

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, SCV001165432.1

#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