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GRCh38/hg38 16q22.1(chr16:66945487-67024713)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 30, 2010
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:
RCV000141311.3

Allele description [Variation Report for GRCh38/hg38 16q22.1(chr16:66945487-67024713)x3]

GRCh38/hg38 16q22.1(chr16:66945487-67024713)x3

Genes:
  • LOC130059170:ATAC-STARR-seq lymphoblastoid active region 10947 [Gene]
  • LOC130059171:ATAC-STARR-seq lymphoblastoid active region 10948 [Gene]
  • LOC130059169:ATAC-STARR-seq lymphoblastoid silent region 7573 [Gene]
  • LOC130059172:ATAC-STARR-seq lymphoblastoid silent region 7575 [Gene]
  • LOC126862377:BRD4-independent group 4 enhancer GRCh37_chr16:67004920-67006119 [Gene]
  • LOC129390803:MPRA-validated peak2620 silencer [Gene]
  • LOC129390804:MPRA-validated peak2621 silencer [Gene]
  • LOC125177333:Sharpr-MPRA regulatory region 2980 [Gene]
  • LOC112469016:Sharpr-MPRA regulatory region 4953 [Gene]
  • CES3:carboxylesterase 3 [Gene - OMIM - HGNC]
  • CES4A:carboxylesterase 4A [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
GRCh38/hg38 16q22.1(chr16:66945487-67024713)x3
HGVS:
  • NC_000016.10:g.(?_66945487)_(67024713_?)dup
  • NC_000016.9:g.(?_66979390)_(67058616_?)dup
Links:
dbVar: nssv1610568; dbVar: nsv932747
Observations:
1

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
SCV000182216GeneDx
no assertion criteria provided
Uncertain significance
(Nov 30, 2010) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000182216.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023