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GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 10, 2020
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:
RCV001259686.1

Allele description [Variation Report for GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1]

GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1

Genes:
  • ARIH2OS:ARIH2 opposite strand lncRNA [Gene - HGNC]
  • CAMKV:CaM kinase like vesicle associated [Gene - OMIM - HGNC]
  • DALRD3:DALR anticodon binding domain containing 3 [Gene - OMIM - HGNC]
  • GNAI2:G protein subunit alpha i2 [Gene - OMIM - HGNC]
  • GNAT1:G protein subunit alpha transducin 1 [Gene - OMIM - HGNC]
  • GMPPB:GDP-mannose pyrophosphorylase B [Gene - OMIM - HGNC]
  • HEMK1:HemK methyltransferase family member 1 [Gene - OMIM - HGNC]
  • MAPKAPK3:MAPK activated protein kinase 3 [Gene - OMIM - HGNC]
  • MON1A:MON1 homolog A, secretory trafficking associated [Gene - OMIM - HGNC]
  • NAA80:N-alpha-acetyltransferase 80, NatH catalytic subunit [Gene - OMIM - HGNC]
  • NDUFAF3:NADH:ubiquinone oxidoreductase complex assembly factor 3 [Gene - OMIM - HGNC]
  • NPRL2:NPR2 like, GATOR1 complex subunit [Gene - OMIM - HGNC]
  • RBM5:RNA binding motif protein 5 [Gene - OMIM - HGNC]
  • RBM6:RNA binding motif protein 6 [Gene - OMIM - HGNC]
  • RASSF1:Ras association domain family member 1 [Gene - OMIM - HGNC]
  • SEMA3F-AS1:SEMA3F antisense RNA 1 [Gene - HGNC]
  • TCTA:T cell leukemia translocation altered [Gene - OMIM - HGNC]
  • TRAIP:TRAF interacting protein [Gene - OMIM - HGNC]
  • WDR6:WD repeat domain 6 [Gene - OMIM - HGNC]
  • APEH:acylaminoacyl-peptide hydrolase [Gene - OMIM - HGNC]
  • AMIGO3:adhesion molecule with Ig like domain 3 [Gene - OMIM - HGNC]
  • AMT:aminomethyltransferase [Gene - OMIM - HGNC]
  • ARIH2:ariadne RBR E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • BSN:bassoon presynaptic cytomatrix protein [Gene - OMIM - HGNC]
  • CDHR4:cadherin related family member 4 [Gene - HGNC]
  • CACNA2D2:calcium voltage-gated channel auxiliary subunit alpha2delta 2 [Gene - OMIM - HGNC]
  • C3orf18:chromosome 3 open reading frame 18 [Gene - HGNC]
  • C3orf62:chromosome 3 open reading frame 62 [Gene - HGNC]
  • C3orf84:chromosome 3 open reading frame 84 [Gene - HGNC]
  • CCDC71:coiled-coil domain containing 71 [Gene - HGNC]
  • CYB561D2:cytochrome b561 family member D2 [Gene - OMIM - HGNC]
  • CISH:cytokine inducible SH2 containing protein [Gene - OMIM - HGNC]
  • DOCK3:dedicator of cytokinesis 3 [Gene - OMIM - HGNC]
  • DAG1:dystroglycan 1 [Gene - OMIM - HGNC]
  • QRICH1:glutamine rich 1 [Gene - OMIM - HGNC]
  • QARS1:glutaminyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • GPX1:glutathione peroxidase 1 [Gene - OMIM - HGNC]
  • HYAL1:hyaluronidase 1 [Gene - OMIM - HGNC]
  • HYAL2:hyaluronidase 2 [Gene - OMIM - HGNC]
  • HYAL3:hyaluronidase 3 [Gene - OMIM - HGNC]
  • INKA1:inka box actin regulator 1 [Gene - HGNC]
  • IMPDH2:inosine monophosphate dehydrogenase 2 [Gene - OMIM - HGNC]
  • IP6K1:inositol hexakisphosphate kinase 1 [Gene - OMIM - HGNC]
  • IHO1:interactor of HORMAD1 1 [Gene - OMIM - HGNC]
  • IFRD2:interferon related developmental regulator 2 [Gene - OMIM - HGNC]
  • KLHDC8B:kelch domain containing 8B [Gene - OMIM - HGNC]
  • LAMB2:laminin subunit beta 2 [Gene - OMIM - HGNC]
  • LSMEM2:leucine rich single-pass membrane protein 2 [Gene - HGNC]
  • MST1R:macrophage stimulating 1 receptor [Gene - OMIM - HGNC]
  • MST1:macrophage stimulating 1 [Gene - OMIM - HGNC]
  • MIR191:microRNA 191 [Gene - OMIM - HGNC]
  • NICN1:nicolin 1, tubulin polyglutamylase complex subunit [Gene - OMIM - HGNC]
  • P4HTM:prolyl 4-hydroxylase, transmembrane [Gene - OMIM - HGNC]
  • PRKAR2A:protein kinase cAMP-dependent type II regulatory subunit alpha [Gene - OMIM - HGNC]
  • RHOA:ras homolog family member A [Gene - OMIM - HGNC]
  • RNF123:ring finger protein 123 [Gene - OMIM - HGNC]
  • SEMA3B:semaphorin 3B [Gene - OMIM - HGNC]
  • SEMA3F:semaphorin 3F [Gene - OMIM - HGNC]
  • SLC25A20:solute carrier family 25 member 20 [Gene - OMIM - HGNC]
  • SLC38A3:solute carrier family 38 member 3 [Gene - OMIM - HGNC]
  • TMEM115:transmembrane protein 115 [Gene - OMIM - HGNC]
  • TUSC2:tumor suppressor 2, mitochondrial calcium regulator [Gene - OMIM - HGNC]
  • UBA7:ubiquitin like modifier activating enzyme 7 [Gene - OMIM - HGNC]
  • USP19:ubiquitin specific peptidase 19 [Gene - OMIM - HGNC]
  • USP4:ubiquitin specific peptidase 4 [Gene - OMIM - HGNC]
  • ZMYND10:zinc finger MYND-type containing 10 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3p21.31-21.2
Genomic location:
Chr3: 48807193 - 51363558 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1
HGVS:
NC_000003.11:g.(?_48807193)_(51363558_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001436655Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Apr 10, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001436655.1

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

Last Updated: Apr 23, 2022