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GRCh37/hg19 14q32.33(chr14:105771428-106188230)x1 AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 11, 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:
RCV000751146.2

Allele description

GRCh37/hg19 14q32.33(chr14:105771428-106188230)x1

Genes:
  • BRF1:BRF1 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
  • CRIP1:cysteine rich protein 1 [Gene - OMIM - HGNC]
  • CRIP2:cysteine rich protein 2 [Gene - OMIM - HGNC]
  • IGHA1:immunoglobulin heavy constant alpha 1 [Gene - OMIM - HGNC]
  • IGHA2:immunoglobulin heavy constant alpha 2 (A2m marker) [Gene - OMIM - HGNC]
  • IGHE:immunoglobulin heavy constant epsilon [Gene - OMIM - HGNC]
  • IGHG2:immunoglobulin heavy constant gamma 2 (G2m marker) [Gene - OMIM - HGNC]
  • IGHG4:immunoglobulin heavy constant gamma 4 (G4m marker) [Gene - OMIM - HGNC]
  • IGH:immunoglobulin heavy locus [Gene - OMIM - OMIM - OMIM - HGNC]
  • MTA1:metastasis associated 1 [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]
Variant type:
copy number loss
Cytogenetic location:
14q32.33
Genomic location:
Chr14: 105771428 - 106188230 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 14q32.33(chr14:105771428-106188230)x1
HGVS:
NC_000014.8:g.(?_105771428)_(106188230_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000879482Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
no assertion criteria provided
Benign
(Jan 11, 2012)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000879482.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000295241.2)
not provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providedbloodnot provided
(GTR000295241.2)
not providednot providednot providednot provided

Last Updated: Mar 4, 2023