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GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 8, 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:
RCV001258798.1

Allele description [Variation Report for GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1]

GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1

Genes:
  • ABHD11-AS1:ABHD11 antisense RNA 1 (tail to tail) [Gene - OMIM - HGNC]
  • BCL7B:BAF chromatin remodeling complex subunit BCL7B [Gene - OMIM - HGNC]
  • BUD23:BUD23 rRNA methyltransferase and ribosome maturation factor [Gene - OMIM - HGNC]
  • CCL24:C-C motif chemokine ligand 24 [Gene - OMIM - HGNC]
  • CCL26:C-C motif chemokine ligand 26 [Gene - OMIM - HGNC]
  • CLIP2:CAP-Gly domain containing linker protein 2 [Gene - OMIM - HGNC]
  • DNAJC30:DnaJ heat shock protein family (Hsp40) member C30 [Gene - OMIM - HGNC]
  • FKBP6:FKBP prolyl isomerase family member 6 (inactive) [Gene - OMIM - HGNC]
  • GTF2IRD1:GTF2I repeat domain containing 1 [Gene - OMIM - HGNC]
  • GTF2IRD2:GTF2I repeat domain containing 2 [Gene - OMIM - HGNC]
  • GTF2IRD2B:GTF2I repeat domain containing 2B [Gene - OMIM - HGNC]
  • LIMK1:LIM domain kinase 1 [Gene - OMIM - HGNC]
  • MLXIPL:MLX interacting protein like [Gene - OMIM - HGNC]
  • NSUN5:NOP2/Sun RNA methyltransferase 5 [Gene - OMIM - HGNC]
  • POMZP3:POM121 and ZP3 fusion [Gene - OMIM - HGNC]
  • POM121C:POM121 transmembrane nucleoporin C [Gene - OMIM - HGNC]
  • POM121:POM121 transmembrane nucleoporin [Gene - OMIM - HGNC]
  • RCC1L:RCC1 like [Gene - HGNC]
  • VPS37D:VPS37D subunit of ESCRT-I [Gene - OMIM - HGNC]
  • ABHD11:abhydrolase domain containing 11 [Gene - HGNC]
  • BAZ1B:bromodomain adjacent to zinc finger domain 1B [Gene - OMIM - HGNC]
  • CLDN3:claudin 3 [Gene - OMIM - HGNC]
  • CLDN4:claudin 4 [Gene - OMIM - HGNC]
  • POR:cytochrome p450 oxidoreductase [Gene - OMIM - HGNC]
  • CASTOR2:cytosolic arginine sensor for mTORC1 subunit 2 [Gene - OMIM - HGNC]
  • DTX2:deltex E3 ubiquitin ligase 2 [Gene - OMIM - HGNC]
  • ELN:elastin [Gene - OMIM - HGNC]
  • EIF4H:eukaryotic translation initiation factor 4H [Gene - OMIM - HGNC]
  • FZD9:frizzled class receptor 9 [Gene - OMIM - HGNC]
  • GTF2I:general transcription factor IIi [Gene - OMIM - HGNC]
  • HSPB1:heat shock protein family B (small) member 1 [Gene - OMIM - HGNC]
  • HIP1:huntingtin interacting protein 1 [Gene - OMIM - HGNC]
  • LAT2:linker for activation of T cells family member 2 [Gene - OMIM - HGNC]
  • MDH2:malate dehydrogenase 2 [Gene - OMIM - HGNC]
  • METTL27:methyltransferase like 27 [Gene - OMIM - HGNC]
  • MIR590:microRNA 590 [Gene - OMIM - HGNC]
  • NCF1:neutrophil cytosolic factor 1 [Gene - OMIM - HGNC]
  • RFC2:replication factor C subunit 2 [Gene - OMIM - HGNC]
  • RHBDD2:rhomboid domain containing 2 [Gene - OMIM - HGNC]
  • SSC4D:scavenger receptor cysteine rich family member with 4 domains [Gene - OMIM - HGNC]
  • SRRM3:serine/arginine repetitive matrix 3 [Gene - HGNC]
  • STYXL1:serine/threonine/tyrosine interacting like 1 [Gene - OMIM - HGNC]
  • SPDYE5:speedy/RINGO cell cycle regulator family member E5 [Gene - HGNC]
  • STX1A:syntaxin 1A [Gene - OMIM - HGNC]
  • TBL2:transducin beta like 2 [Gene - OMIM - HGNC]
  • TMEM120A:transmembrane protein 120A [Gene - OMIM - HGNC]
  • TMEM270:transmembrane protein 270 [Gene - OMIM - HGNC]
  • TRIM50:tripartite motif containing 50 [Gene - OMIM - HGNC]
  • TRIM73:tripartite motif containing 73 [Gene - OMIM - HGNC]
  • TRIM74:tripartite motif containing 74 [Gene - OMIM - HGNC]
  • YWHAG:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma [Gene - OMIM - HGNC]
  • ZP3:zona pellucida glycoprotein 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q11.23
Genomic location:
Chr7: 72403117 - 76709600 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1
HGVS:
NC_000007.13:g.(?_72403117)_(76709600_?)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
SCV001435767Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Nov 8, 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, SCV001435767.1

#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: Apr 23, 2022