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GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 30, 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:
RCV000846246.2

Allele description [Variation Report for GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1]

GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1

Genes:
  • ARL14EPL:ADP ribosylation factor like GTPase 14 effector protein like [Gene - HGNC]
  • APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
  • COMMD10:COMM domain containing 10 [Gene - OMIM - HGNC]
  • DTWD2:DTW domain containing 2 [Gene - HGNC]
  • DMXL1:Dmx like 1 [Gene - OMIM - HGNC]
  • FER:FER tyrosine kinase [Gene - OMIM - HGNC]
  • MCC:MCC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
  • STARD4:StAR related lipid transfer domain containing 4 [Gene - OMIM - HGNC]
  • TICAM2:TIR domain containing adaptor molecule 2 [Gene - OMIM - HGNC]
  • TMED7-TICAM2:TMED7-TICAM2 readthrough [Gene - HGNC]
  • TNFAIP8:TNF alpha induced protein 8 [Gene - OMIM - HGNC]
  • WDR36:WD repeat domain 36 [Gene - OMIM - HGNC]
  • YTHDC2:YTH domain containing 2 [Gene - OMIM - HGNC]
  • AP3S1:adaptor related protein complex 3 subunit sigma 1 [Gene - OMIM - HGNC]
  • ATG12:autophagy related 12 [Gene - OMIM - HGNC]
  • CAMK4:calcium/calmodulin dependent protein kinase IV [Gene - OMIM - HGNC]
  • CCDC112:coiled-coil domain containing 112 [Gene - HGNC]
  • CDO1:cysteine dioxygenase type 1 [Gene - OMIM - HGNC]
  • DCP2:decapping mRNA 2 [Gene - OMIM - HGNC]
  • EPB41L4A:erythrocyte membrane protein band 4.1 like 4A [Gene - OMIM - HGNC]
  • FAM170A:family with sequence similarity 170 member A [Gene - OMIM - HGNC]
  • FEM1C:fem-1 homolog C [Gene - OMIM - HGNC]
  • FTMT:ferritin mitochondrial [Gene - OMIM - HGNC]
  • HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]
  • LVRN:laeverin [Gene - OMIM - HGNC]
  • MAN2A1:mannosidase alpha class 2A member 1 [Gene - OMIM - HGNC]
  • NREP:neuronal regeneration related protein [Gene - OMIM - HGNC]
  • KCNN2:potassium calcium-activated channel subfamily N member 2 [Gene - OMIM - HGNC]
  • PJA2:praja ring finger ubiquitin ligase 2 [Gene - OMIM - HGNC]
  • PRR16:proline rich 16 [Gene - OMIM - HGNC]
  • PGGT1B:protein geranylgeranyltransferase type I subunit beta [Gene - OMIM - HGNC]
  • REEP5:receptor accessory protein 5 [Gene - OMIM - HGNC]
  • SEMA6A:semaphorin 6A [Gene - OMIM - HGNC]
  • SRFBP1:serum response factor binding protein 1 [Gene - OMIM - HGNC]
  • SRP19:signal recognition particle 19 [Gene - OMIM - HGNC]
  • SLC25A46:solute carrier family 25 member 46 [Gene - OMIM - HGNC]
  • TSSK1B:testis specific serine kinase 1B [Gene - OMIM - HGNC]
  • TSLP:thymic stromal lymphopoietin [Gene - OMIM - HGNC]
  • TMED7:transmembrane p24 trafficking protein 7 [Gene - OMIM - HGNC]
  • TMEM232:transmembrane protein 232 [Gene - HGNC]
  • TRIM36:tripartite motif containing 36 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5q21.3-23.1
Genomic location:
Chr5: 108304806 - 121335239 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1
HGVS:
NC_000005.9:g.(?_108304806)_(121335239_?)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
SCV000988367Bionano Laboratories
no assertion criteria provided
Pathogenic
(Jun 30, 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, SCV000988367.1

#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