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GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 26, 2018
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:
RCV001006339.1

Allele description [Variation Report for GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1]

GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1

Genes:
  • ADIRF-AS1:ADIRF antisense RNA 1 [Gene - HGNC]
  • AGAP11:ArfGAP with GTPase domain, ankyrin repeat and PH domain 11 [Gene - HGNC]
  • DYDC1:DPY30 domain containing 1 [Gene - OMIM - HGNC]
  • DYDC2:DPY30 domain containing 2 [Gene - HGNC]
  • GPR15LG:G protein-coupled receptor 15 ligand [Gene - OMIM - HGNC]
  • LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
  • SH2D4B:SH2 domain containing 4B [Gene - HGNC]
  • WAPL:WAPL cohesin release factor [Gene - OMIM - HGNC]
  • ADIRF:adipogenesis regulatory factor [Gene - HGNC]
  • ANXA11:annexin A11 [Gene - OMIM - HGNC]
  • BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]
  • CDHR1:cadherin related family member 1 [Gene - OMIM - HGNC]
  • CCSER2:coiled-coil serine rich protein 2 [Gene - OMIM - HGNC]
  • FAM25A:family with sequence similarity 25 member A [Gene - HGNC]
  • GLUD1:glutamate dehydrogenase 1 [Gene - OMIM - HGNC]
  • GRID1:glutamate ionotropic receptor delta type subunit 1 [Gene - OMIM - HGNC]
  • GHITM:growth hormone inducible transmembrane protein [Gene - OMIM - HGNC]
  • LRIT1:leucine rich repeat, Ig-like and transmembrane domains 1 [Gene - OMIM - HGNC]
  • LRIT2:leucine rich repeat, Ig-like and transmembrane domains 2 [Gene - HGNC]
  • LINC01520:long intergenic non-protein coding RNA 1520 [Gene - HGNC]
  • MAT1A:methionine adenosyltransferase 1A [Gene - OMIM - HGNC]
  • MIR346:microRNA 346 [Gene - OMIM - HGNC]
  • MMRN2:multimerin 2 [Gene - OMIM - HGNC]
  • NRG3:neuregulin 3 [Gene - OMIM - HGNC]
  • OPN4:opsin 4 [Gene - OMIM - HGNC]
  • PRXL2A:peroxiredoxin like 2A [Gene - OMIM - HGNC]
  • PLAC9:placenta associated 9 [Gene - OMIM - HGNC]
  • RGR:retinal G protein coupled receptor [Gene - OMIM - HGNC]
  • SHLD2:shieldin complex subunit 2 [Gene - OMIM - HGNC]
  • SFTPD:surfactant protein D [Gene - OMIM - HGNC]
  • SNCG:synuclein gamma [Gene - OMIM - HGNC]
  • TSPAN14:tetraspanin 14 [Gene - HGNC]
  • TMEM254:transmembrane protein 254 [Gene - HGNC]
  • LOC101929662:uncharacterized LOC101929662 [Gene]
Variant type:
copy number loss
Cytogenetic location:
10q22.3-23.2
Genomic location:
Chr10: 81617260 - 88980961 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1
HGVS:
NC_000010.10:g.(?_81617260)_(88980961_?)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
SCV001165897Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Dec 26, 2018)
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, SCV001165897.1

#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: Mar 26, 2023