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GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 20, 2020
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:
RCV001258914.1

Allele description [Variation Report for GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1]

GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1

Genes:
  • ARFRP1:ADP ribosylation factor related protein 1 [Gene - OMIM - HGNC]
  • DNAJC5:DnaJ heat shock protein family (Hsp40) member C5 [Gene - OMIM - HGNC]
  • LKAAEAR1:LKAAEAR motif containing 1 [Gene - HGNC]
  • LIME1:Lck interacting transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • SLC2A4RG:SLC2A4 regulator [Gene - OMIM - HGNC]
  • SOX18:SRY-box transcription factor 18 [Gene - OMIM - HGNC]
  • TNFRSF6B:TNF receptor superfamily member 6b [Gene - OMIM - HGNC]
  • TPD52L2:TPD52 like 2 [Gene - OMIM - HGNC]
  • ABHD16B:abhydrolase domain containing 16B [Gene - HGNC]
  • CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]
  • EEF1A2:eukaryotic translation elongation factor 1 alpha 2 [Gene - OMIM - HGNC]
  • FNDC11:fibronectin type III domain containing 11 [Gene - HGNC]
  • GMEB2:glucocorticoid modulatory element binding protein 2 [Gene - OMIM - HGNC]
  • HELZ2:helicase with zinc finger 2 [Gene - OMIM - HGNC]
  • MYT1:myelin transcription factor 1 [Gene - OMIM - HGNC]
  • NPBWR2:neuropeptides B and W receptor 2 [Gene - OMIM - HGNC]
  • OPRL1:opioid related nociceptin receptor 1 [Gene - OMIM - HGNC]
  • PPDPF:pancreatic progenitor cell differentiation and proliferation factor [Gene - HGNC]
  • KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
  • PRPF6:pre-mRNA processing factor 6 [Gene - OMIM - HGNC]
  • PTK6:protein tyrosine kinase 6 [Gene - OMIM - HGNC]
  • PCMTD2:protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 [Gene - HGNC]
  • RGS19:regulator of G protein signaling 19 [Gene - OMIM - HGNC]
  • RTEL1:regulator of telomere elongation helicase 1 [Gene - OMIM - HGNC]
  • SRMS:src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites [Gene - OMIM - HGNC]
  • STMN3:stathmin 3 [Gene - OMIM - HGNC]
  • SAMD10:sterile alpha motif domain containing 10 [Gene - HGNC]
  • TCEA2:transcription elongation factor A2 [Gene - OMIM - HGNC]
  • UCKL1:uridine-cytidine kinase 1 like 1 [Gene - OMIM - HGNC]
  • ZGPAT:zinc finger CCCH-type and G-patch domain containing [Gene - OMIM - HGNC]
  • ZBTB46:zinc finger and BTB domain containing 46 [Gene - OMIM - HGNC]
  • ZNF512B:zinc finger protein 512B [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
20q13.33
Genomic location:
Chr20: 61975605 - 62915555 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1
HGVS:
NC_000020.10:g.(?_61975605)_(62915555_?)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
SCV001435883Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Mar 20, 2020)
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, SCV001435883.1

#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