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GRCh38/hg38 2p25.3(chr2:3288311-3410171)x3 AND See cases

Germline classification:
Likely benign (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:
RCV000140140.3

Allele description [Variation Report for GRCh38/hg38 2p25.3(chr2:3288311-3410171)x3]

GRCh38/hg38 2p25.3(chr2:3288311-3410171)x3

Genes:
  • LOC129932993:ATAC-STARR-seq lymphoblastoid active region 15227 [Gene]
  • LOC129932994:ATAC-STARR-seq lymphoblastoid active region 15228 [Gene]
  • LOC129932995:ATAC-STARR-seq lymphoblastoid active region 15229 [Gene]
  • LOC129932996:ATAC-STARR-seq lymphoblastoid silent region 11108 [Gene]
  • LOC129932997:ATAC-STARR-seq lymphoblastoid silent region 11109 [Gene]
  • EIPR1:EARP complex and GARP complex interacting protein 1 [Gene - OMIM - HGNC]
  • TRAPPC12:trafficking protein particle complex subunit 12 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2p25.3
Genomic location:
Preferred name:
GRCh38/hg38 2p25.3(chr2:3288311-3410171)x3
HGVS:
  • NC_000002.12:g.(?_3288311)_(3410171_?)dup
  • NC_000002.11:g.(?_3292082)_(3413942_?)dup
Links:
dbVar: nssv1609212; dbVar: nsv931313
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
SCV000180812GeneDx
no assertion criteria provided
Likely benign
(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, SCV000180812.3

#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