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GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 2018
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:
RCV000847084.2

Allele description [Variation Report for GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1]

GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1

Genes:
  • ADAMTS18:ADAM metallopeptidase with thrombospondin type 1 motif 18 [Gene - OMIM - HGNC]
  • BCAR1:BCAR1 scaffold protein, Cas family member [Gene - OMIM - HGNC]
  • CLEC18B:C-type lectin domain family 18 member B [Gene - OMIM - HGNC]
  • GABARAPL2:GABA type A receptor associated protein like 2 [Gene - OMIM - HGNC]
  • MON1B:MON1 homolog B, secretory trafficking associated [Gene - OMIM - HGNC]
  • TERF2IP:TERF2 interacting protein [Gene - OMIM - HGNC]
  • WDR59:WD repeat domain 59 [Gene - OMIM - HGNC]
  • ZFP1:ZFP1 zinc finger protein [Gene - OMIM - HGNC]
  • ADAT1:adenosine deaminase tRNA specific 1 [Gene - OMIM - HGNC]
  • CHST5:carbohydrate sulfotransferase 5 [Gene - OMIM - HGNC]
  • CHST6:carbohydrate sulfotransferase 6 [Gene - OMIM - HGNC]
  • C16orf47:chromosome 16 open reading frame 47 [Gene - HGNC]
  • CTRB1:chymotrypsinogen B1 [Gene - OMIM - HGNC]
  • CTRB2:chymotrypsinogen B2 [Gene - OMIM - HGNC]
  • CNTNAP4:contactin associated protein family member 4 [Gene - OMIM - HGNC]
  • CFDP1:craniofacial development protein 1 [Gene - OMIM - HGNC]
  • FA2H:fatty acid 2-hydroxylase [Gene - OMIM - HGNC]
  • GLG1:golgi glycoprotein 1 [Gene - OMIM - HGNC]
  • LDHD:lactate dehydrogenase D [Gene - OMIM - HGNC]
  • KARS1:lysyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • MLKL:mixed lineage kinase domain like pseudokinase [Gene - OMIM - HGNC]
  • NPIPB15:nuclear pore complex interacting protein family member B15 [Gene - HGNC]
  • PSMD7:proteasome 26S subunit, non-ATPase 7 [Gene - OMIM - HGNC]
  • RFWD3:ring finger and WD repeat domain 3 [Gene - OMIM - HGNC]
  • SYCE1L:synaptonemal complex central element protein 1 like [Gene - OMIM - HGNC]
  • TMEM170A:transmembrane protein 170A [Gene - HGNC]
  • TMEM231:transmembrane protein 231 [Gene - OMIM - HGNC]
  • ZNRF1:zinc and ring finger 1 [Gene - OMIM - HGNC]
  • ZFHX3:zinc finger homeobox 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16q22.2-23.1
Genomic location:
Chr16: 72677179 - 77439111 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1
HGVS:
NC_000016.9:g.(?_72677179)_(77439111_?)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
SCV000989206Bionano Laboratories
no assertion criteria provided
Uncertain significance
(Apr 19, 2018) 		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, SCV000989206.1

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

Last Updated: Dec 11, 2022