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GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 14, 2017
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:
RCV000847188.2

Allele description [Variation Report for GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1]

GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1

Genes:
  • AHNAK2:AHNAK nucleoprotein 2 [Gene - OMIM - HGNC]
  • AKT1:AKT serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • ATP5MJ:ATP synthase membrane subunit j [Gene - OMIM - HGNC]
  • BAG5:BAG cochaperone 5 [Gene - OMIM - HGNC]
  • BRF1:BRF1 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
  • BTBD6:BTB domain containing 6 [Gene - HGNC]
  • CDC42BPB:CDC42 binding protein kinase beta [Gene - OMIM - HGNC]
  • GPR132:G protein-coupled receptor 132 [Gene - OMIM - HGNC]
  • RD3L:RD3 like [Gene - HGNC]
  • RCOR1:REST corepressor 1 [Gene - OMIM - HGNC]
  • SIVA1:SIVA1 apoptosis inducing factor [Gene - OMIM - HGNC]
  • TNFAIP2:TNF alpha induced protein 2 [Gene - OMIM - HGNC]
  • TRAF3:TNF receptor associated factor 3 [Gene - OMIM - HGNC]
  • XRCC3:X-ray repair cross complementing 3 [Gene - OMIM - HGNC]
  • ADSS1:adenylosuccinate synthase 1 [Gene - OMIM - HGNC]
  • AMN:amnion associated transmembrane protein [Gene - OMIM - HGNC]
  • ANKRD9:ankyrin repeat domain 9 [Gene - OMIM - HGNC]
  • ASPG:asparaginase [Gene - OMIM - HGNC]
  • CDCA4:cell division cycle associated 4 [Gene - OMIM - HGNC]
  • CEP170B:centrosomal protein 170B [Gene - HGNC]
  • C14orf180:chromosome 14 open reading frame 180 [Gene - OMIM - HGNC]
  • CLBA1:clathrin binding box of aftiphilin containing 1 [Gene - HGNC]
  • CKB:creatine kinase B [Gene - OMIM - HGNC]
  • CRIP1:cysteine rich protein 1 [Gene - OMIM - HGNC]
  • CRIP2:cysteine rich protein 2 [Gene - OMIM - HGNC]
  • COA8:cytochrome c oxidase assembly factor 8 [Gene - OMIM - HGNC]
  • EIF5:eukaryotic translation initiation factor 5 [Gene - OMIM - HGNC]
  • EXOC3L4:exocyst complex component 3 like 4 [Gene - 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]
  • IGHD3-3:immunoglobulin heavy diversity 3-3 [Gene - OMIM - HGNC]
  • IGH:immunoglobulin heavy locus [Gene - OMIM - OMIM - OMIM - HGNC]
  • IGHV3-23:immunoglobulin heavy variable 3-23 [Gene - OMIM - HGNC]
  • INF2:inverted formin 2 [Gene - OMIM - HGNC]
  • JAG2:jagged canonical Notch ligand 2 [Gene - OMIM - HGNC]
  • KIF26A:kinesin family member 26A [Gene - OMIM - HGNC]
  • KLC1:kinesin light chain 1 [Gene - OMIM - HGNC]
  • MTA1:metastasis associated 1 [Gene - OMIM - HGNC]
  • MIR203A:microRNA 203a [Gene - OMIM - HGNC]
  • MARK3:microtubule affinity regulating kinase 3 [Gene - OMIM - HGNC]
  • NUDT14:nudix hydrolase 14 [Gene - OMIM - HGNC]
  • PACS2:phosphofurin acidic cluster sorting protein 2 [Gene - OMIM - HGNC]
  • PLD4:phospholipase D family member 4 [Gene - OMIM - HGNC]
  • PPP1R13B:protein phosphatase 1 regulatory subunit 13B [Gene - OMIM - HGNC]
  • TRMT61A:tRNA methyltransferase 61A [Gene - HGNC]
  • TECPR2:tectonin beta-propeller repeat containing 2 [Gene - OMIM - HGNC]
  • TEX22:testis expressed 22 [Gene - HGNC]
  • TMEM121:transmembrane protein 121 [Gene - HGNC]
  • TMEM179:transmembrane protein 179 [Gene - HGNC]
  • TEDC1:tubulin epsilon and delta complex 1 [Gene - HGNC]
  • TDRD9:tudor domain containing 9 [Gene - OMIM - HGNC]
  • ZFYVE21:zinc finger FYVE-type containing 21 [Gene - OMIM - HGNC]
  • ZBTB42:zinc finger and BTB domain containing 42 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
14q32.31-32.33
Genomic location:
Chr14: 102931119 - 107285437 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1
HGVS:
NC_000014.8:g.(?_102931119)_(107285437_?)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
SCV000989310Bionano Laboratories
no assertion criteria provided
Pathogenic
(Dec 14, 2017)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Bionano Laboratories, SCV000989310.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providedBuccalnot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022