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GRCh38/hg38 3q25.1(chr3:151182346-151437002)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:
RCV000141402.3

Allele description [Variation Report for GRCh38/hg38 3q25.1(chr3:151182346-151437002)x3]

GRCh38/hg38 3q25.1(chr3:151182346-151437002)x3

Genes:
  • LOC129937768:ATAC-STARR-seq lymphoblastoid active region 20700 [Gene]
  • LOC129937769:ATAC-STARR-seq lymphoblastoid active region 20701 [Gene]
  • GPR171:G protein-coupled receptor 171 [Gene - OMIM - HGNC]
  • GPR87:G protein-coupled receptor 87 [Gene - OMIM - HGNC]
  • LOC126806846:MED14-independent group 3 enhancer GRCh37_chr3:151033994-151035193 [Gene]
  • LOC123192020:Sharpr-MPRA regulatory region 3159 [Gene]
  • LOC123192019:Sharpr-MPRA regulatory region 7583 [Gene]
  • LOC123192021:Sharpr-MPRA regulatory region 9761 [Gene]
  • IGSF10:immunoglobulin superfamily member 10 [Gene - OMIM - HGNC]
  • MED12L:mediator complex subunit 12L [Gene - OMIM - HGNC]
  • P2RY12:purinergic receptor P2Y12 [Gene - OMIM - HGNC]
  • P2RY13:purinergic receptor P2Y13 [Gene - OMIM - HGNC]
  • P2RY14:purinergic receptor P2Y14 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3q25.1
Genomic location:
Preferred name:
GRCh38/hg38 3q25.1(chr3:151182346-151437002)x3
HGVS:
  • NC_000003.12:g.(?_151182346)_(151437002_?)dup
  • NC_000003.11:g.(?_150900133)_(151154790_?)dup
Links:
dbVar: nssv3396569; dbVar: nsv993513
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
SCV000182317GeneDx
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, SCV000182317.3

#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