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GRCh38/hg38 2q34(chr2:212964934-213515243)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:
RCV000140122.3

Allele description [Variation Report for GRCh38/hg38 2q34(chr2:212964934-213515243)x3]

GRCh38/hg38 2q34(chr2:212964934-213515243)x3

Genes:
  • LOC129935526:ATAC-STARR-seq lymphoblastoid active region 17058 [Gene]
  • LOC129935527:ATAC-STARR-seq lymphoblastoid active region 17059 [Gene]
  • LOC129935528:ATAC-STARR-seq lymphoblastoid active region 17060 [Gene]
  • LOC129935529:ATAC-STARR-seq lymphoblastoid active region 17061 [Gene]
  • LOC129935532:ATAC-STARR-seq lymphoblastoid active region 17062 [Gene]
  • LOC129935533:ATAC-STARR-seq lymphoblastoid active region 17063 [Gene]
  • LOC129935534:ATAC-STARR-seq lymphoblastoid active region 17064 [Gene]
  • LOC129935535:ATAC-STARR-seq lymphoblastoid active region 17065 [Gene]
  • LOC129935536:ATAC-STARR-seq lymphoblastoid active region 17066 [Gene]
  • LOC129935530:ATAC-STARR-seq lymphoblastoid silent region 12294 [Gene]
  • LOC129935531:ATAC-STARR-seq lymphoblastoid silent region 12295 [Gene]
  • IKZF2:IKAROS family zinc finger 2 [Gene - OMIM - HGNC]
  • LOC126806495:MED14-independent group 3 enhancer GRCh37_chr2:214276253-214277452 [Gene]
  • LOC129388990:MPRA-validated peak4034 silencer [Gene]
  • LOC129388991:MPRA-validated peak4035 silencer [Gene]
  • SPAG16-DT:SPAG16 divergent transcript [Gene - HGNC]
  • LINC01953:long intergenic non-protein coding RNA 1953 [Gene - HGNC]
  • SPAG16:sperm associated antigen 16 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q34
Genomic location:
Preferred name:
GRCh38/hg38 2q34(chr2:212964934-213515243)x3
HGVS:
  • NC_000002.12:g.(?_212964934)_(213515243_?)dup
  • NC_000002.11:g.(?_213829658)_(214379967_?)dup
Links:
dbVar: nssv1609191; dbVar: nsv931292
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
SCV000180792GeneDx
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, SCV000180792.3

#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