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GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3 AND See cases

Germline classification:
Likely benign (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:
RCV000134443.3

Allele description [Variation Report for GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3]

GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3

Genes:
  • LOC130056712:ATAC-STARR-seq lymphoblastoid active region 9154 [Gene]
  • LOC130056713:ATAC-STARR-seq lymphoblastoid active region 9155 [Gene]
  • LOC130056714:ATAC-STARR-seq lymphoblastoid active region 9156 [Gene]
  • LOC130056715:ATAC-STARR-seq lymphoblastoid active region 9157 [Gene]
  • LOC130056716:ATAC-STARR-seq lymphoblastoid active region 9158 [Gene]
  • LOC130056717:ATAC-STARR-seq lymphoblastoid active region 9159 [Gene]
  • LOC130056718:ATAC-STARR-seq lymphoblastoid active region 9160 [Gene]
  • LOC130056707:ATAC-STARR-seq lymphoblastoid silent region 6257 [Gene]
  • LOC130056708:ATAC-STARR-seq lymphoblastoid silent region 6258 [Gene]
  • LOC130056709:ATAC-STARR-seq lymphoblastoid silent region 6259 [Gene]
  • LOC130056710:ATAC-STARR-seq lymphoblastoid silent region 6260 [Gene]
  • LOC130056711:ATAC-STARR-seq lymphoblastoid silent region 6261 [Gene]
  • LOC126862074:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:22990202-22991401 [Gene]
  • NIPA1:NIPA magnesium transporter 1 [Gene - OMIM - HGNC]
  • NIPA2:NIPA magnesium transporter 2 [Gene - OMIM - HGNC]
  • LOC112272576:Sharpr-MPRA regulatory region 3977 [Gene]
  • LOC112272575:Sharpr-MPRA regulatory region 8478 [Gene]
  • CYFIP1:cytoplasmic FMR1 interacting protein 1 [Gene - OMIM - HGNC]
  • TUBGCP5:tubulin gamma complex component 5 [Gene - OMIM - HGNC]
  • LOC283683:uncharacterized LOC283683 [Gene]
Variant type:
copy number gain
Cytogenetic location:
15q11.2
Genomic location:
Preferred name:
GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3
HGVS:
  • NC_000015.10:g.(?_22572858)_(23012211_?)dup
  • NC_000015.9:g.(?_22860857)_(23300238_?)dup
Links:
dbVar: nssv585108; dbVar: nsv497526
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
SCV000173990GeneDx
no assertion criteria provided
Likely benign
(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, SCV000173990.3

#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