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GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 9, 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:
RCV000683284.1

Allele description [Variation Report for GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1]

GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1

Genes:
  • PAPSS2:3'-phosphoadenosine 5'-phosphosulfate synthase 2 [Gene - OMIM - HGNC]
  • HTR7:5-hydroxytryptamine receptor 7 [Gene - OMIM - HGNC]
  • ADIRF-AS1:ADIRF antisense RNA 1 [Gene - HGNC]
  • ATAD1:ATPase family AAA domain containing 1 [Gene - OMIM - HGNC]
  • AGAP11:ArfGAP with GTPase domain, ankyrin repeat and PH domain 11 [Gene - HGNC]
  • FAS-AS1:FAS antisense RNA 1 [Gene - HGNC]
  • FAS:Fas cell surface death receptor [Gene - OMIM - HGNC]
  • GPR15LG:G protein-coupled receptor 15 ligand [Gene - OMIM - HGNC]
  • HECTD2:HECT domain E3 ubiquitin protein ligase 2 [Gene - HGNC]
  • LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
  • NUTM2A:NUT family member 2A [Gene - HGNC]
  • STAMBPL1:STAM binding protein like 1 [Gene - OMIM - HGNC]
  • WAPL:WAPL cohesin release factor [Gene - OMIM - HGNC]
  • ACTA2:actin alpha 2, smooth muscle [Gene - OMIM - HGNC]
  • ADIRF:adipogenesis regulatory factor [Gene - HGNC]
  • ANKRD1:ankyrin repeat domain 1 [Gene - OMIM - HGNC]
  • ANKRD22:ankyrin repeat domain 22 [Gene - HGNC]
  • BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]
  • CDHR1:cadherin related family member 1 [Gene - OMIM - HGNC]
  • CH25H:cholesterol 25-hydroxylase [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]
  • IFIT1:interferon induced protein with tetratricopeptide repeats 1 [Gene - OMIM - HGNC]
  • IFIT1B:interferon induced protein with tetratricopeptide repeats 1B [Gene - HGNC]
  • IFIT2:interferon induced protein with tetratricopeptide repeats 2 [Gene - OMIM - HGNC]
  • IFIT3:interferon induced protein with tetratricopeptide repeats 3 [Gene - OMIM - HGNC]
  • IFIT5:interferon induced protein with tetratricopeptide repeats 5 [Gene - OMIM - HGNC]
  • KLLN:killin, p53 regulated DNA replication inhibitor [Gene - OMIM - HGNC]
  • KIF20B:kinesin family member 20B [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]
  • LIPA:lipase A, lysosomal acid type [Gene - OMIM - HGNC]
  • LIPF:lipase F, gastric type [Gene - OMIM - HGNC]
  • LIPJ:lipase family member J [Gene - OMIM - HGNC]
  • LIPK:lipase family member K [Gene - OMIM - HGNC]
  • LIPM:lipase family member M [Gene - OMIM - HGNC]
  • LIPN:lipase family member N [Gene - OMIM - HGNC]
  • LINC01520:long intergenic non-protein coding RNA 1520 [Gene - HGNC]
  • MIR107:microRNA 107 [Gene - OMIM - HGNC]
  • MIR346:microRNA 346 [Gene - OMIM - HGNC]
  • MMRN2:multimerin 2 [Gene - OMIM - HGNC]
  • MINPP1:multiple inositol-polyphosphate phosphatase 1 [Gene - OMIM - HGNC]
  • NRG3:neuregulin 3 [Gene - OMIM - HGNC]
  • OPN4:opsin 4 [Gene - OMIM - HGNC]
  • PANK1:pantothenate kinase 1 [Gene - OMIM - HGNC]
  • PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
  • PCGF5:polycomb group ring finger 5 [Gene - OMIM - HGNC]
  • RNLS:renalase, FAD dependent amine oxidase [Gene - OMIM - HGNC]
  • RGR:retinal G protein coupled receptor [Gene - OMIM - HGNC]
  • RPP30:ribonuclease P/MRP subunit p30 [Gene - OMIM - HGNC]
  • SHLD2:shieldin complex subunit 2 [Gene - OMIM - HGNC]
  • SLC16A12:solute carrier family 16 member 12 [Gene - OMIM - HGNC]
  • SNCG:synuclein gamma [Gene - OMIM - HGNC]
  • LOC101929662:uncharacterized LOC101929662 [Gene]
Variant type:
copy number loss
Cytogenetic location:
10q23.1-23.32
Genomic location:
Chr10: 83379241 - 93219169 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1
HGVS:
NC_000010.10:g.(?_83379241)_(93219169_?)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
SCV000810792Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Mar 9, 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, SCV000810792.1

#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