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GRCh38/hg38 7p11.2(chr7:54724764-55037899)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000053441.5

Allele description [Variation Report for GRCh38/hg38 7p11.2(chr7:54724764-55037899)x3]

GRCh38/hg38 7p11.2(chr7:54724764-55037899)x3

Genes:
  • LOC129998450:ATAC-STARR-seq lymphoblastoid silent region 18184 [Gene]
  • LOC129998451:ATAC-STARR-seq lymphoblastoid silent region 18185 [Gene]
  • LOC126860044:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:54898510-54899709 [Gene]
  • LOC126860045:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:55052801-55054000 [Gene]
  • SEC61G:SEC61 translocon subunit gamma [Gene - OMIM - HGNC]
  • SEC61G-DT:SEC61G divergent transcript [Gene - HGNC]
  • EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]
  • LOC120766156:negCOR silencer S2 [Gene]
Variant type:
copy number gain
Cytogenetic location:
7p11.2
Genomic location:
Preferred name:
GRCh38/hg38 7p11.2(chr7:54724764-55037899)x3
HGVS:
  • NC_000007.14:g.(?_54724764)_(55037899_?)dup
  • NC_000007.12:g.(?_54759951)_(55073086_?)dup
  • NC_000007.13:g.(?_54792457)_(55105592_?)dup
Links:
dbVar: nssv581264; dbVar: nsv532123
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
SCV000080799GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		paternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000080799.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023