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GRCh38/hg38 Xq24(chrX:120666321-121243925)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 2, 2012
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:
RCV000139237.5

Allele description [Variation Report for GRCh38/hg38 Xq24(chrX:120666321-121243925)x3]

GRCh38/hg38 Xq24(chrX:120666321-121243925)x3

Genes:
  • LOC130068623:ATAC-STARR-seq lymphoblastoid active region 29904 [Gene]
  • LOC130068624:ATAC-STARR-seq lymphoblastoid active region 29905 [Gene]
  • LOC130068625:ATAC-STARR-seq lymphoblastoid active region 29906 [Gene]
  • LOC130068626:ATAC-STARR-seq lymphoblastoid active region 29907 [Gene]
  • LOC126863313:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:119870341-119871540 [Gene]
  • LOC126863314:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:120331053-120332252 [Gene]
  • CT47A10:cancer/testis antigen family 47 member A10 [Gene - OMIM - HGNC]
  • CT47A11:cancer/testis antigen family 47 member A11 [Gene - OMIM - HGNC]
  • CT47A12:cancer/testis antigen family 47 member A12 [Gene - HGNC]
  • CT47A1:cancer/testis antigen family 47 member A1 [Gene - OMIM - HGNC]
  • CT47A2:cancer/testis antigen family 47 member A2 [Gene - OMIM - HGNC]
  • CT47A3:cancer/testis antigen family 47 member A3 [Gene - OMIM - HGNC]
  • CT47A4:cancer/testis antigen family 47 member A4 [Gene - OMIM - HGNC]
  • CT47A5:cancer/testis antigen family 47 member A5 [Gene - OMIM - HGNC]
  • CT47A6:cancer/testis antigen family 47 member A6 [Gene - OMIM - HGNC]
  • CT47A7:cancer/testis antigen family 47 member A7 [Gene - OMIM - HGNC]
  • CT47A8:cancer/testis antigen family 47 member A8 [Gene - OMIM - HGNC]
  • CT47A9:cancer/testis antigen family 47 member A9 [Gene - OMIM - HGNC]
  • CT47B1:cancer/testis antigen family 47 member B1 [Gene - OMIM - HGNC]
  • GLUD2:glutamate dehydrogenase 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq24
Genomic location:
Preferred name:
GRCh38/hg38 Xq24(chrX:120666321-121243925)x3
HGVS:
  • NC_000023.11:g.(?_120666321)_(121243925_?)dup
  • NC_000023.10:g.(?_119800176)_(120377779_?)dup
  • NC_000023.9:g.(?_119684204)_(120205460_?)dup
Links:
dbVar: nssv1603634; dbVar: nsv916646
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
SCV000179755ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Jul 2, 2012) 		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

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000179755.4

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

Last Updated: May 7, 2024