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GRCh38/hg38 14q32.33(chr14:105817508-106855263)x1 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 9, 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:
RCV000135642.5

Allele description [Variation Report for GRCh38/hg38 14q32.33(chr14:105817508-106855263)x1]

GRCh38/hg38 14q32.33(chr14:105817508-106855263)x1

Genes:
  • LOC130056701:ATAC-STARR-seq lymphoblastoid active region 9151 [Gene]
  • LOC108348026:ATP6V1G1P1-IGHD intergenic CAGE-defined B cell enhancer [Gene]
  • LOC126862073:BRD4-independent group 4 enhancer GRCh37_chr14:106662526-106663725 [Gene]
  • LOC126862072:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:106657005-106658204 [Gene]
  • LOC126862071:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:106445918-106447117 [Gene]
  • FAM30A:family with sequence similarity 30 member A [Gene - OMIM - HGNC]
  • IGHD:immunoglobulin heavy constant delta [Gene - OMIM - HGNC]
  • IGHM:immunoglobulin heavy constant mu [Gene - OMIM - HGNC]
  • IGHD1-14:immunoglobulin heavy diversity 1-14 (non-functional) [Gene - HGNC]
  • IGHD1-1:immunoglobulin heavy diversity 1-1 [Gene - HGNC]
  • IGHD1-20:immunoglobulin heavy diversity 1-20 [Gene - HGNC]
  • IGHD1-26:immunoglobulin heavy diversity 1-26 [Gene - HGNC]
  • IGHD1-7:immunoglobulin heavy diversity 1-7 [Gene - HGNC]
  • IGHD2-15:immunoglobulin heavy diversity 2-15 [Gene - HGNC]
  • IGHD2-21:immunoglobulin heavy diversity 2-21 [Gene - HGNC]
  • IGHD2-2:immunoglobulin heavy diversity 2-2 [Gene - HGNC]
  • IGHD2-8:immunoglobulin heavy diversity 2-8 [Gene - HGNC]
  • IGHD3-10:immunoglobulin heavy diversity 3-10 [Gene - HGNC]
  • IGHD3-16:immunoglobulin heavy diversity 3-16 [Gene - HGNC]
  • IGHD3-22:immunoglobulin heavy diversity 3-22 [Gene - HGNC]
  • IGHD3-3:immunoglobulin heavy diversity 3-3 [Gene - OMIM - HGNC]
  • IGHD3-9:immunoglobulin heavy diversity 3-9 [Gene - HGNC]
  • IGHD4-11:immunoglobulin heavy diversity 4-11 (non-functional) [Gene - HGNC]
  • IGHD4-17:immunoglobulin heavy diversity 4-17 [Gene - HGNC]
  • IGHD4-23:immunoglobulin heavy diversity 4-23 (non-functional) [Gene - HGNC]
  • IGHD4-4:immunoglobulin heavy diversity 4-4 [Gene - HGNC]
  • IGHD5-12:immunoglobulin heavy diversity 5-12 [Gene - HGNC]
  • IGHD5-18:immunoglobulin heavy diversity 5-18 [Gene - HGNC]
  • IGHD5-24:immunoglobulin heavy diversity 5-24 (non-functional) [Gene - HGNC]
  • IGHD5-5:immunoglobulin heavy diversity 5-5 [Gene - HGNC]
  • IGHD6-13:immunoglobulin heavy diversity 6-13 [Gene - HGNC]
  • IGHD6-19:immunoglobulin heavy diversity 6-19 [Gene - HGNC]
  • IGHD6-25:immunoglobulin heavy diversity 6-25 [Gene - HGNC]
  • IGHD6-6:immunoglobulin heavy diversity 6-6 [Gene - HGNC]
  • IGHD7-27:immunoglobulin heavy diversity 7-27 [Gene - HGNC]
  • IGHJ1:immunoglobulin heavy joining 1 [Gene - HGNC]
  • IGHJ2:immunoglobulin heavy joining 2 [Gene - HGNC]
  • IGHJ3:immunoglobulin heavy joining 3 [Gene - HGNC]
  • IGHJ4:immunoglobulin heavy joining 4 [Gene - HGNC]
  • IGHJ5:immunoglobulin heavy joining 5 [Gene - HGNC]
  • IGHJ6:immunoglobulin heavy joining 6 [Gene - HGNC]
  • IGHV1-18:immunoglobulin heavy variable 1-18 [Gene - HGNC]
  • IGHV1-24:immunoglobulin heavy variable 1-24 [Gene - HGNC]
  • IGHV1-2:immunoglobulin heavy variable 1-2 [Gene - HGNC]
  • IGHV1-3:immunoglobulin heavy variable 1-3 [Gene - HGNC]
  • IGHV1-45:immunoglobulin heavy variable 1-45 [Gene - HGNC]
  • IGHV1-46:immunoglobulin heavy variable 1-46 [Gene - HGNC]
  • IGHV1-58:immunoglobulin heavy variable 1-58 [Gene - HGNC]
  • IGHV1-69-2:immunoglobulin heavy variable 1-69-2 [Gene - HGNC]
  • IGHV1-69:immunoglobulin heavy variable 1-69 [Gene - HGNC]
  • IGHV1-69D:immunoglobulin heavy variable 1-69D [Gene - HGNC]
  • IGHV2-26:immunoglobulin heavy variable 2-26 [Gene - HGNC]
  • IGHV2-5:immunoglobulin heavy variable 2-5 [Gene - HGNC]
  • IGHV2-70:immunoglobulin heavy variable 2-70 [Gene - HGNC]
  • IGHV2-70D:immunoglobulin heavy variable 2-70D [Gene - HGNC]
  • IGHV3-11:immunoglobulin heavy variable 3-11 [Gene - HGNC]
  • IGHV3-13:immunoglobulin heavy variable 3-13 [Gene - HGNC]
  • IGHV3-15:immunoglobulin heavy variable 3-15 [Gene - HGNC]
  • IGHV3-16:immunoglobulin heavy variable 3-16 (non-functional) [Gene - HGNC]
  • IGHV3-20:immunoglobulin heavy variable 3-20 [Gene - HGNC]
  • IGHV3-21:immunoglobulin heavy variable 3-21 [Gene - HGNC]
  • IGHV3-23:immunoglobulin heavy variable 3-23 [Gene - OMIM - HGNC]
  • IGHV3-30:immunoglobulin heavy variable 3-30 [Gene - HGNC]
  • IGHV3-33:immunoglobulin heavy variable 3-33 [Gene - HGNC]
  • IGHV3-35:immunoglobulin heavy variable 3-35 (non-functional) [Gene - HGNC]
  • IGHV3-38:immunoglobulin heavy variable 3-38 (non-functional) [Gene - HGNC]
  • IGHV3-43:immunoglobulin heavy variable 3-43 [Gene - HGNC]
  • IGHV3-48:immunoglobulin heavy variable 3-48 [Gene - HGNC]
  • IGHV3-49:immunoglobulin heavy variable 3-49 [Gene - HGNC]
  • IGHV3-53:immunoglobulin heavy variable 3-53 [Gene - HGNC]
  • IGHV3-64:immunoglobulin heavy variable 3-64 [Gene - HGNC]
  • IGHV3-64D:immunoglobulin heavy variable 3-64D [Gene - HGNC]
  • IGHV3-66:immunoglobulin heavy variable 3-66 [Gene - HGNC]
  • IGHV3-72:immunoglobulin heavy variable 3-72 [Gene - HGNC]
  • IGHV3-73:immunoglobulin heavy variable 3-73 [Gene - HGNC]
  • IGHV3-74:immunoglobulin heavy variable 3-74 [Gene - HGNC]
  • IGHV3-7:immunoglobulin heavy variable 3-7 [Gene - HGNC]
  • IGHV4-28:immunoglobulin heavy variable 4-28 [Gene - HGNC]
  • IGHV4-30-2:immunoglobulin heavy variable 4-30-2 [Gene - HGNC]
  • IGHV4-31:immunoglobulin heavy variable 4-31 [Gene - HGNC]
  • IGHV4-34:immunoglobulin heavy variable 4-34 [Gene - HGNC]
  • IGHV4-39:immunoglobulin heavy variable 4-39 [Gene - HGNC]
  • IGHV4-4:immunoglobulin heavy variable 4-4 [Gene - HGNC]
  • IGHV4-59:immunoglobulin heavy variable 4-59 [Gene - HGNC]
  • IGHV4-61:immunoglobulin heavy variable 4-61 [Gene - HGNC]
  • IGHV5-10-1:immunoglobulin heavy variable 5-10-1 [Gene - HGNC]
  • IGHV5-51:immunoglobulin heavy variable 5-51 [Gene - HGNC]
  • IGHV6-1:immunoglobulin heavy variable 6-1 [Gene - HGNC]
  • IGHV7-4-1:immunoglobulin heavy variable 7-4-1 [Gene - HGNC]
  • LINC00221:long intergenic non-protein coding RNA 221 [Gene - HGNC]
  • LINC00226:long intergenic non-protein coding RNA 226 [Gene - HGNC]
  • MIR4507:microRNA 4507 [Gene - HGNC]
  • MIR4537:microRNA 4537 [Gene - HGNC]
  • MIR4538:microRNA 4538 [Gene - HGNC]
  • MIR4539:microRNA 4539 [Gene - HGNC]
  • MIR5195:microRNA 5195 [Gene - HGNC]
  • IGH:immunoglobulin heavy locus [Gene - OMIM - OMIM - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
14q32.33
Genomic location:
Preferred name:
GRCh38/hg38 14q32.33(chr14:105817508-106855263)x1
HGVS:
  • NC_000014.9:g.(?_105817508)_(106855263_?)del
  • NC_000014.7:g.(?_105354886)_(106334523_?)del
  • NC_000014.8:g.(?_106283841)_(107263478_?)del
Links:
dbVar: nssv706382; dbVar: nsv530483
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
SCV000175524ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Mar 9, 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, SCV000175524.4

#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