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GRCh38/hg38 5p13.2(chr5:37239106-37487479)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 30, 2011
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:
RCV000141383.3

Allele description [Variation Report for GRCh38/hg38 5p13.2(chr5:37239106-37487479)x3]

GRCh38/hg38 5p13.2(chr5:37239106-37487479)x3

Genes:
  • LOC129993817:ATAC-STARR-seq lymphoblastoid active region 22486 [Gene]
  • LOC129993818:ATAC-STARR-seq lymphoblastoid active region 22487 [Gene]
  • LOC129993819:ATAC-STARR-seq lymphoblastoid active region 22488 [Gene]
  • LOC129993820:ATAC-STARR-seq lymphoblastoid active region 22489 [Gene]
  • LOC129993815:ATAC-STARR-seq lymphoblastoid silent region 15978 [Gene]
  • LOC129993816:ATAC-STARR-seq lymphoblastoid silent region 15979 [Gene]
  • CPLANE1-AS1:CPLANE1 antisense RNA 1 [Gene - HGNC]
  • LOC129389275:MPRA-validated peak5228 silencer [Gene]
  • LOC129389276:MPRA-validated peak5230 silencer [Gene]
  • WDR70:WD repeat domain 70 [Gene - OMIM - HGNC]
  • CPLANE1:ciliogenesis and planar polarity effector complex subunit 1 [Gene - OMIM - HGNC]
  • NUP155:nucleoporin 155 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
GRCh38/hg38 5p13.2(chr5:37239106-37487479)x3
HGVS:
  • NC_000005.10:g.(?_37239106)_(37487479_?)dup
  • NC_000005.9:g.(?_37239208)_(37487581_?)dup
Links:
dbVar: nssv3396541; dbVar: nsv993488
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
SCV000182294GeneDx
no assertion criteria provided
Uncertain significance
(Apr 30, 2011) 		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, SCV000182294.3

#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