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GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000767619.1

Allele description [Variation Report for GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)]

GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)

Genes:
  • ATP2C2:ATPase secretory pathway Ca2+ transporting 2 [Gene - OMIM - HGNC]
  • BANP:BTG3 associated nuclear protein [Gene - OMIM - HGNC]
  • CBFA2T3:CBFA2/RUNX1 partner transcriptional co-repressor 3 [Gene - OMIM - HGNC]
  • CIBAR2:CBY1 interacting BAR domain containing 2 [Gene - OMIM - HGNC]
  • CENPBD1:CENPB DNA-binding domain containing 1 [Gene - HGNC]
  • EMC8:ER membrane protein complex subunit 8 [Gene - OMIM - HGNC]
  • FBXO31:F-box protein 31 [Gene - OMIM - HGNC]
  • FANCA:FA complementation group A [Gene - OMIM - HGNC]
  • FENDRR:FOXF1 adjacent non-coding developmental regulatory RNA [Gene - OMIM - HGNC]
  • GINS2:GINS complex subunit 2 [Gene - OMIM - HGNC]
  • GSE1:Gse1 coiled-coil protein [Gene - OMIM - HGNC]
  • KIAA0513:KIAA0513 [Gene - OMIM - HGNC]
  • MEAK7:MTOR associated protein, eak-7 homolog [Gene - OMIM - HGNC]
  • NECAB2:N-terminal EF-hand calcium binding protein 2 [Gene - OMIM - HGNC]
  • PABPN1L:PABPN1 like, cytoplasmic [Gene - HGNC]
  • SPG7:SPG7 matrix AAA peptidase subunit, paraplegin [Gene - OMIM - HGNC]
  • TAF1C:TATA-box binding protein associated factor, RNA polymerase I subunit C [Gene - OMIM - HGNC]
  • VPS9D1:VPS9 domain containing 1 [Gene - OMIM - HGNC]
  • WFDC1:WAP four-disulfide core domain 1 [Gene - OMIM - HGNC]
  • ZCCHC14-DT:ZCCHC14 divergent transcript [Gene - HGNC]
  • ACSF3:acyl-CoA synthetase family member 3 [Gene - OMIM - HGNC]
  • APRT:adenine phosphoribosyltransferase [Gene - OMIM - HGNC]
  • ADAD2:adenosine deaminase domain containing 2 [Gene - OMIM - HGNC]
  • ANKRD11:ankyrin repeat domain containing 11 [Gene - OMIM - HGNC]
  • CDH13:cadherin 13 [Gene - OMIM - HGNC]
  • CDH15:cadherin 15 [Gene - OMIM - HGNC]
  • CA5A:carbonic anhydrase 5A [Gene - OMIM - HGNC]
  • CHMP1A:charged multivesicular body protein 1A [Gene - OMIM - HGNC]
  • CDT1:chromatin licensing and DNA replication factor 1 [Gene - OMIM - HGNC]
  • C16orf74:chromosome 16 open reading frame 74 [Gene - HGNC]
  • C16orf95:chromosome 16 open reading frame 95 [Gene - HGNC]
  • COTL1:coactosin like F-actin binding protein 1 [Gene - OMIM - HGNC]
  • CPNE7:copine 7 [Gene - OMIM - HGNC]
  • CDK10:cyclin dependent kinase 10 [Gene - OMIM - HGNC]
  • CRISPLD2:cysteine rich secretory protein LCCL domain containing 2 [Gene - OMIM - HGNC]
  • CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]
  • COX4I1:cytochrome c oxidase subunit 4I1 [Gene - OMIM - HGNC]
  • CTU2:cytosolic thiouridylase subunit 2 [Gene - OMIM - HGNC]
  • DEF8:differentially expressed in FDCP 8 homolog [Gene - HGNC]
  • DPEP1:dipeptidase 1 [Gene - OMIM - HGNC]
  • DNAAF1:dynein axonemal assembly factor 1 [Gene - OMIM - HGNC]
  • FOXC2:forkhead box C2 [Gene - OMIM - HGNC]
  • FOXF1:forkhead box F1 [Gene - OMIM - HGNC]
  • FOXL1:forkhead box L1 [Gene - OMIM - HGNC]
  • GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]
  • HSBP1:heat shock factor binding protein 1 [Gene - OMIM - HGNC]
  • HSDL1:hydroxysteroid dehydrogenase like 1 [Gene - OMIM - HGNC]
  • IRF8:interferon regulatory factor 8 [Gene - OMIM - HGNC]
  • IL17C:interleukin 17C [Gene - OMIM - HGNC]
  • JPH3:junctophilin 3 [Gene - OMIM - HGNC]
  • KLHDC4:kelch domain containing 4 [Gene - HGNC]
  • KLHL36:kelch like family member 36 [Gene - HGNC]
  • LINC01082:long intergenic non-protein coding RNA 1082 [Gene - OMIM - HGNC]
  • MLYCD:malonyl-CoA decarboxylase [Gene - OMIM - HGNC]
  • MC1R:melanocortin 1 receptor [Gene - OMIM - HGNC]
  • MBTPS1:membrane bound transcription factor peptidase, site 1 [Gene - OMIM - HGNC]
  • MTHFSD:methenyltetrahydrofolate synthetase domain containing [Gene - OMIM - HGNC]
  • MVD:mevalonate diphosphate decarboxylase [Gene - OMIM - HGNC]
  • MAP1LC3B:microtubule associated protein 1 light chain 3 beta [Gene - OMIM - HGNC]
  • OSGIN1:oxidative stress induced growth inhibitor 1 [Gene - OMIM - HGNC]
  • PIEZO1:piezo type mechanosensitive ion channel component 1 [Gene - OMIM - HGNC]
  • KCNG4:potassium voltage-gated channel modifier subfamily G member 4 [Gene - OMIM - HGNC]
  • RPL13:ribosomal protein L13 [Gene - OMIM - HGNC]
  • RNF166:ring finger protein 166 [Gene - OMIM - HGNC]
  • SNAI3:snail family transcriptional repressor 3 [Gene - OMIM - HGNC]
  • SLC22A31:solute carrier family 22 member 31 [Gene - HGNC]
  • SLC38A8:solute carrier family 38 member 8 [Gene - OMIM - HGNC]
  • SLC7A5:solute carrier family 7 member 5 [Gene - OMIM - HGNC]
  • SPATA2L:spermatogenesis associated 2 like [Gene - HGNC]
  • SPATA33:spermatogenesis associated 33 [Gene - OMIM - HGNC]
  • SPIRE2:spire type actin nucleation factor 2 [Gene - OMIM - HGNC]
  • LOC654780:splicing factor proline/glutamine-rich [Gene]
  • TRAPPC2L:trafficking protein particle complex subunit 2L [Gene - OMIM - HGNC]
  • TCF25:transcription factor 25 [Gene - OMIM - HGNC]
  • TUBB3:tubulin beta 3 class III [Gene - OMIM - HGNC]
  • USP10:ubiquitin specific peptidase 10 [Gene - OMIM - HGNC]
  • LOC101927817:uncharacterized LOC101927817 [Gene]
  • LOC101928417:uncharacterized LOC101928417 [Gene]
  • ZC3H18:zinc finger CCCH-type containing 18 [Gene - HGNC]
  • ZCCHC14:zinc finger CCHC-type containing 14 [Gene - HGNC]
  • ZDHHC7:zinc finger DHHC-type palmitoyltransferase 7 [Gene - OMIM - HGNC]
  • ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]
  • ZNF469:zinc finger protein 469 [Gene - OMIM - HGNC]
  • ZNF778:zinc finger protein 778 [Gene - HGNC]
  • ZFPM1:zinc finger protein, FOG family member 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16q23.3-24.3
Genomic location:
Chr16: 82761333 - 90055381 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)
Observations:
1

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
SCV000898241Baylor Genetics
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)
Pathogenic
(Nov 1, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedclinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Baylor Genetics, SCV000898241.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Duplications involving this region have been previously reported in patients with dysmorphic features and intellectual disability [PMID: 23333879]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Mar 26, 2023