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GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 13, 2017
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:
RCV000683746.1

Allele description [Variation Report for GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1]

GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1

Genes:
  • BRICD5:BRICHOS domain containing 5 [Gene - HGNC]
  • CASKIN1:CASK interacting protein 1 [Gene - OMIM - HGNC]
  • E4F1:E4F transcription factor 1 [Gene - OMIM - HGNC]
  • JPT2:Jupiter microtubule associated homolog 2 [Gene - OMIM - HGNC]
  • MLST8:MTOR associated protein, LST8 homolog [Gene - OMIM - HGNC]
  • NDUFB10:NADH:ubiquinone oxidoreductase subunit B10 [Gene - OMIM - HGNC]
  • NOXO1:NADPH oxidase organizer 1 [Gene - OMIM - HGNC]
  • NHERF2:NHERF family PDZ scaffold protein 2 [Gene - OMIM - HGNC]
  • NME3:NME/NM23 nucleoside diphosphate kinase 3 [Gene - OMIM - HGNC]
  • NUBP2:NUBP iron-sulfur cluster assembly factor 2, cytosolic [Gene - OMIM - HGNC]
  • RAB26:RAB26, member RAS oncogene family [Gene - OMIM - HGNC]
  • TRAF7:TNF receptor associated factor 7 [Gene - OMIM - HGNC]
  • TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
  • EME2:essential meiotic structure-specific endonuclease subunit 2 [Gene - OMIM - HGNC]
  • FAHD1:fumarylacetoacetate hydrolase domain containing 1 [Gene - OMIM - HGNC]
  • GFER:growth factor, augmenter of liver regeneration [Gene - OMIM - HGNC]
  • HS3ST6:heparan sulfate-glucosamine 3-sulfotransferase 6 [Gene - OMIM - HGNC]
  • HAGH:hydroxyacylglutathione hydrolase [Gene - OMIM - HGNC]
  • IGFALS:insulin like growth factor binding protein acid labile subunit [Gene - OMIM - HGNC]
  • MEIOB:meiosis specific with OB-fold [Gene - OMIM - HGNC]
  • MSRB1:methionine sulfoxide reductase B1 [Gene - OMIM - HGNC]
  • MIR1225:microRNA 1225 [Gene - OMIM - HGNC]
  • MRPS34:mitochondrial ribosomal protein S34 [Gene - OMIM - HGNC]
  • MAPK8IP3:mitogen-activated protein kinase 8 interacting protein 3 [Gene - OMIM - HGNC]
  • NPW:neuropeptide W [Gene - OMIM - HGNC]
  • NTHL1:nth like DNA glycosylase 1 [Gene - OMIM - HGNC]
  • PGP:phosphoglycolate phosphatase [Gene - OMIM - HGNC]
  • PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
  • RPL3L:ribosomal protein L3 like [Gene - OMIM - HGNC]
  • RPS2:ribosomal protein S2 [Gene - OMIM - HGNC]
  • RNF151:ring finger protein 151 [Gene - HGNC]
  • SNHG9:small nucleolar RNA host gene 9 [Gene - HGNC]
  • SPSB3:splA/ryanodine receptor domain and SOCS box containing 3 [Gene - OMIM - HGNC]
  • SYNGR3:synaptogyrin 3 [Gene - OMIM - HGNC]
  • TBL3:transducin beta like 3 [Gene - OMIM - HGNC]
  • ZNF598:zinc finger protein 598, E3 ubiquitin ligase [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16p13.3
Genomic location:
Chr16: 1734363 - 2285561 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1
HGVS:
NC_000016.9:g.(?_1734363)_(2285561_?)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
SCV000811255Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Dec 13, 2017)
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, SCV000811255.1

#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