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GRCh38/hg38 14q11.2(chr14:22229069-22495939)x1 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 14, 2010
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:
RCV000136725.4

Allele description [Variation Report for GRCh38/hg38 14q11.2(chr14:22229069-22495939)x1]

GRCh38/hg38 14q11.2(chr14:22229069-22495939)x1

Genes:
  • LOC130055289:ATAC-STARR-seq lymphoblastoid active region 8113 [Gene]
  • LOC130055290:ATAC-STARR-seq lymphoblastoid active region 8114 [Gene]
  • LOC130055291:ATAC-STARR-seq lymphoblastoid active region 8115 [Gene]
  • LOC130055292:ATAC-STARR-seq lymphoblastoid active region 8116 [Gene]
  • LOC130055294:ATAC-STARR-seq lymphoblastoid active region 8117 [Gene]
  • LOC130055295:ATAC-STARR-seq lymphoblastoid active region 8118 [Gene]
  • LOC130055296:ATAC-STARR-seq lymphoblastoid active region 8119 [Gene]
  • LOC130055297:ATAC-STARR-seq lymphoblastoid active region 8120 [Gene]
  • LOC130055298:ATAC-STARR-seq lymphoblastoid active region 8121 [Gene]
  • LOC130055293:ATAC-STARR-seq lymphoblastoid silent region 5584 [Gene]
  • LOC126861891:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:22931886-22933085 [Gene]
  • LOC112214171:Sharpr-MPRA regulatory region 15263 [Gene]
  • TRAJ43:T cell receptor alpha joining 43 [Gene - HGNC]
  • TRAJ44:T cell receptor alpha joining 44 [Gene - HGNC]
  • TRAJ45:T cell receptor alpha joining 45 [Gene - HGNC]
  • TRAJ46:T cell receptor alpha joining 46 [Gene - HGNC]
  • TRAJ47:T cell receptor alpha joining 47 [Gene - HGNC]
  • TRAJ48:T cell receptor alpha joining 48 [Gene - HGNC]
  • TRAJ49:T cell receptor alpha joining 49 [Gene - HGNC]
  • TRAJ50:T cell receptor alpha joining 50 [Gene - HGNC]
  • TRAJ52:T cell receptor alpha joining 52 [Gene - HGNC]
  • TRAJ53:T cell receptor alpha joining 53 [Gene - HGNC]
  • TRAJ54:T cell receptor alpha joining 54 [Gene - HGNC]
  • TRAJ56:T cell receptor alpha joining 56 [Gene - HGNC]
  • TRAJ57:T cell receptor alpha joining 57 [Gene - HGNC]
  • TRAJ58:T cell receptor alpha joining 58 (non-functional) [Gene - HGNC]
  • TRAJ59:T cell receptor alpha joining 59 (non-functional) [Gene - HGNC]
  • TRAJ61:T cell receptor alpha joining 61 (non-functional) [Gene - HGNC]
  • TRAV38-1:T cell receptor alpha variable 38-1 [Gene - HGNC]
  • TRAV38-2DV8:T cell receptor alpha variable 38-2/delta variable 8 [Gene - HGNC]
  • TRAV39:T cell receptor alpha variable 39 [Gene - HGNC]
  • TRAV40:T cell receptor alpha variable 40 [Gene - HGNC]
  • TRAV41:T cell receptor alpha variable 41 [Gene - HGNC]
  • TRDC:T cell receptor delta constant [Gene - OMIM - HGNC]
  • TRDD1:T cell receptor delta diversity 1 [Gene - HGNC]
  • TRDD2:T cell receptor delta diversity 2 [Gene - HGNC]
  • TRDD3:T cell receptor delta diversity 3 [Gene - HGNC]
  • TRDJ1:T cell receptor delta joining 1 [Gene - HGNC]
  • TRDJ2:T cell receptor delta joining 2 [Gene - HGNC]
  • TRDJ3:T cell receptor delta joining 3 [Gene - HGNC]
  • TRDJ4:T cell receptor delta joining 4 [Gene - HGNC]
  • TRD:T cell receptor delta locus [Gene - HGNC]
  • TRDV2:T cell receptor delta variable 2 [Gene - HGNC]
  • TRDV3:T cell receptor delta variable 3 [Gene - HGNC]
  • TRD-AS1:TRD antisense RNA 1 [Gene - HGNC]
  • TRA:T cell receptor alpha locus [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
GRCh38/hg38 14q11.2(chr14:22229069-22495939)x1
HGVS:
  • NC_000014.9:g.(?_22229069)_(22495939_?)del
  • NC_000014.7:g.(?_21766804)_(22034762_?)del
  • NC_000014.8:g.(?_22696964)_(22964922_?)del
Links:
dbVar: nssv3395769; dbVar: nssv581535; dbVar: nssv581542; dbVar: nssv581544; dbVar: nssv581572; dbVar: nssv581596; dbVar: nssv581799; dbVar: nsv534068
Observations:
7

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
SCV000176842ISCA site 8

See additional submitters

no assertion criteria provided
Benign
(Oct 14, 2010) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes7not 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 8, SCV000176842.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
3not provided1not providednot providedclinical testing PubMed (1)
4not provided1not providednot providedclinical testing PubMed (1)
5not provided1not providednot providedclinical testing PubMed (1)
6not provided1not providednot providedclinical testing PubMed (1)
7not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided
3not providedyesnot providednot providedDiscovery1not providednot providednot provided
4not providedyesnot providednot providedDiscovery1not providednot providednot provided
5not providedyesnot providednot providedDiscovery1not providednot providednot provided
6not providedyesnot providednot providedDiscovery1not providednot providednot provided
7not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023