GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 30, 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:
RCV000847806.2

Allele description [Variation Report for GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1]

GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1

Genes:
  • ATP6V1B2:ATPase H+ transporting V1 subunit B2 [Gene - OMIM - HGNC]
  • SH2D4A:SH2 domain containing 4A [Gene - OMIM - HGNC]
  • CSGALNACT1:chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Gene - OMIM - HGNC]
  • INTS10:integrator complex subunit 10 [Gene - OMIM - HGNC]
  • LZTS1:leucine zipper tumor suppressor 1 [Gene - OMIM - HGNC]
  • LPL:lipoprotein lipase [Gene - OMIM - HGNC]
  • PSD3:pleckstrin and Sec7 domain containing 3 [Gene - OMIM - HGNC]
  • SLC18A1:solute carrier family 18 member A1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8p22-21.3
Genomic location:
Chr8: 18266233 - 20864195 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1
HGVS:
NC_000008.10:g.(?_18266233)_(20864195_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000989928Bionano Laboratories
no assertion criteria provided
Uncertain significance
(Jun 30, 2017) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Bionano Laboratories, SCV000989928.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providedBuccalnot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023