GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1 AND See cases

Clinical significance:Uncertain significance (Last evaluated: Sep 21, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000138844.3

Allele description [Variation Report for GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1]

GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1

Genes:
  • LOC108348026:ATP6V1G1P1-IGHD intergenic CAGE-defined B cell enhancer [Gene]
  • BRF1:BRF1 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
  • BTBD6:BTB domain containing 6 [Gene - HGNC]
  • CRIP1:cysteine rich protein 1 [Gene - OMIM - HGNC]
  • CRIP2:cysteine rich protein 2 [Gene - OMIM - HGNC]
  • FAM30A:family with sequence similarity 30 member A [Gene - OMIM - HGNC]
  • IGHA1:immunoglobulin heavy constant alpha 1 [Gene - OMIM - HGNC]
  • IGHA2:immunoglobulin heavy constant alpha 2 (A2m marker) [Gene - OMIM - HGNC]
  • IGHD:immunoglobulin heavy constant delta [Gene - OMIM - HGNC]
  • IGHE:immunoglobulin heavy constant epsilon [Gene - OMIM - HGNC]
  • IGHG1:immunoglobulin heavy constant gamma 1 (G1m marker) [Gene - OMIM - HGNC]
  • IGHG2:immunoglobulin heavy constant gamma 2 (G2m marker) [Gene - OMIM - HGNC]
  • IGHG3:immunoglobulin heavy constant gamma 3 (G3m marker) [Gene - OMIM - HGNC]
  • IGHG4:immunoglobulin heavy constant gamma 4 (G4m marker) [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]
  • IGH:immunoglobulin heavy locus [Gene - OMIM - OMIM - OMIM - 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/pseudogene) [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]
  • IGHV7-81:immunoglobulin heavy variable 7-81 (non-functional) [Gene - HGNC]
  • JAG2:jagged canonical Notch ligand 2 [Gene - OMIM - HGNC]
  • LINC00221:long intergenic non-protein coding RNA 221 [Gene - HGNC]
  • LINC00226:long intergenic non-protein coding RNA 226 [Gene - HGNC]
  • MTA1:metastasis associated 1 [Gene - OMIM - 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]
  • MIR6765:microRNA 6765 [Gene - HGNC]
  • MIR8071-1:microRNA 8071-1 [Gene - HGNC]
  • MIR8071-2:microRNA 8071-2 [Gene - HGNC]
  • NUDT14:nudix hydrolase 14 [Gene - OMIM - HGNC]
  • PACS2:phosphofurin acidic cluster sorting protein 2 [Gene - OMIM - HGNC]
  • TEX22:testis expressed 22 [Gene - HGNC]
  • TMEM121:transmembrane protein 121 [Gene - HGNC]
  • TEDC1:tubulin epsilon and delta complex 1 [Gene - HGNC]
  • LOC100507437:uncharacterized LOC100507437 [Gene]
  • LOC105370697:uncharacterized LOC105370697 [Gene]
  • C14orf99:uncharacterized LOC317730 [Gene]
Variant type:
copy number loss
Cytogenetic location:
14q32.33
Genomic location:
Preferred name:
GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1
HGVS:
  • NC_000014.9:g.(?_105105705)_(106879501_?)del
  • NC_000014.7:g.(?_104643087)_(106358753_?)del
  • NC_000014.8:g.(?_105572042)_(107287708_?)del
Links:
dbVar: nssv1602108; dbVar: nsv916142
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000179265ISCA site 4

See additional submitters

no assertion criteria providedUncertain significance
(Sep 21, 2012)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000179265

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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 4, SCV000179265.3

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

Last Updated: Nov 2, 2019

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