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GRCh38/hg38 5p15.31(chr5:9224116-9752796)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 18, 2014
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:
RCV000142283.6

Allele description [Variation Report for GRCh38/hg38 5p15.31(chr5:9224116-9752796)x3]

GRCh38/hg38 5p15.31(chr5:9224116-9752796)x3

Genes:
  • LOC129993639:ATAC-STARR-seq lymphoblastoid active region 22349 [Gene]
  • LOC129993638:ATAC-STARR-seq lymphoblastoid silent region 15909 [Gene]
  • LOC129993640:ATAC-STARR-seq lymphoblastoid silent region 15910 [Gene]
  • SEMA5A-AS1:SEMA5A antisense RNA 1 [Gene - HGNC]
  • LINC02112:long intergenic non-protein coding RNA 2112 [Gene - HGNC]
  • SEMA5A:semaphorin 5A [Gene - OMIM - HGNC]
  • SNHG18:small nucleolar RNA host gene 18 [Gene - HGNC]
  • SNORD123:small nucleolar RNA, C/D box 123 [Gene - HGNC]
  • TAS2R1:taste 2 receptor member 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5p15.31
Genomic location:
Preferred name:
GRCh38/hg38 5p15.31(chr5:9224116-9752796)x3
HGVS:
  • NC_000005.10:g.(?_9224116)_(9752796_?)dup
  • NC_000005.9:g.(?_9224228)_(9752908_?)dup
Links:
dbVar: nssv3395350; dbVar: nsv996167
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
SCV000183597ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Jul 18, 2014) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000183597.4

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

Last Updated: May 7, 2024