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GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1 AND See cases

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 12, 2011
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000148150.6

Allele description [Variation Report for GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1]

GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1

Genes:
  • LOC130058628:ATAC-STARR-seq lymphoblastoid active region 10562 [Gene]
  • LOC130058629:ATAC-STARR-seq lymphoblastoid active region 10565 [Gene]
  • LOC130058632:ATAC-STARR-seq lymphoblastoid active region 10566 [Gene]
  • LOC130058634:ATAC-STARR-seq lymphoblastoid active region 10567 [Gene]
  • LOC130058635:ATAC-STARR-seq lymphoblastoid active region 10568 [Gene]
  • LOC130058636:ATAC-STARR-seq lymphoblastoid active region 10569 [Gene]
  • LOC130058640:ATAC-STARR-seq lymphoblastoid active region 10570 [Gene]
  • LOC130058642:ATAC-STARR-seq lymphoblastoid active region 10571 [Gene]
  • LOC130058645:ATAC-STARR-seq lymphoblastoid active region 10572 [Gene]
  • LOC130058646:ATAC-STARR-seq lymphoblastoid active region 10573 [Gene]
  • LOC130058630:ATAC-STARR-seq lymphoblastoid silent region 7258 [Gene]
  • LOC130058631:ATAC-STARR-seq lymphoblastoid silent region 7259 [Gene]
  • LOC130058633:ATAC-STARR-seq lymphoblastoid silent region 7260 [Gene]
  • LOC130058637:ATAC-STARR-seq lymphoblastoid silent region 7263 [Gene]
  • LOC130058638:ATAC-STARR-seq lymphoblastoid silent region 7264 [Gene]
  • LOC130058639:ATAC-STARR-seq lymphoblastoid silent region 7265 [Gene]
  • LOC130058641:ATAC-STARR-seq lymphoblastoid silent region 7267 [Gene]
  • LOC130058643:ATAC-STARR-seq lymphoblastoid silent region 7268 [Gene]
  • LOC130058644:ATAC-STARR-seq lymphoblastoid silent region 7269 [Gene]
  • CDR2-DT:CDR2 divergent transcript [Gene - HGNC]
  • LOC111562378:GATA motif-containing MPRA enhancer 198 [Gene]
  • LOC126862313:MED14-independent group 3 enhancer GRCh37_chr16:22037440-22038639 [Gene]
  • LOC132090373:Neanderthal introgressed variant-containing enhancer experimental_43156 [Gene]
  • PDZD9:PDZ domain containing 9 [Gene - HGNC]
  • POLR3E:RNA polymerase III subunit E [Gene - OMIM - HGNC]
  • LOC125146427:Sharpr-MPRA regulatory region 14412 [Gene]
  • LOC125146428:Sharpr-MPRA regulatory region 3906 [Gene]
  • LOC121587534:Sharpr-MPRA regulatory region 4253 [Gene]
  • CDR2:cerebellar degeneration related protein 2 [Gene - OMIM - HGNC]
  • EEF2K:eukaryotic elongation factor 2 kinase [Gene - OMIM - HGNC]
  • MOSMO:modulator of smoothened [Gene - HGNC]
  • NPIPB4:nuclear pore complex interacting protein family member B4 [Gene - HGNC]
  • SDR42E2:short chain dehydrogenase/reductase family 42E, member 2 [Gene - HGNC]
  • TRL-AAG2-4:tRNA-Leu (anticodon AAG) 2-4 [Gene - HGNC]
  • TRL-TAG3-1:tRNA-Leu (anticodon TAG) 3-1 [Gene - HGNC]
  • UQCRC2:ubiquinol-cytochrome c reductase core protein 2 [Gene - OMIM - HGNC]
  • LOC105371129:uncharacterized LOC105371129 [Gene]
  • VWA3A:von Willebrand factor A domain containing 3A [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1
HGVS:
  • NC_000016.10:g.(?_21826171)_(22396610_?)del
  • NC_000016.8:g.(?_21744993)_(22315432_?)del
  • NC_000016.9:g.(?_21837492)_(22407931_?)del
Links:
dbVar: nssv580136; dbVar: nssv580137; dbVar: nssv580138; dbVar: nssv580139; dbVar: nssv580143; dbVar: nssv580147; dbVar: nsv1067747
Observations:
5

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190733ISCA site 14

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		unknownclinical testing

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

SCV000190734ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		unknown, maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes3not providednot providednot providednot providedclinical testing
not providednot providedyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 14, SCV000190733.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

From ISCA site 4, SCV000190734.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
3not provided1not providednot providedclinical testing PubMed (1)
4not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided
3maternalyesnot providednot providedDiscovery1not providednot providednot provided
4maternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024