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GRCh37/hg19 5p15.2-15.1(chr5:10515035-17607385)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 14, 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:
RCV000682524.1

Allele description [Variation Report for GRCh37/hg19 5p15.2-15.1(chr5:10515035-17607385)x1]

GRCh37/hg19 5p15.2-15.1(chr5:10515035-17607385)x1

Genes:
  • ANKH:ANKH inorganic pyrophosphate transport regulator [Gene - OMIM - HGNC]
  • FBXL7:F-box and leucine rich repeat protein 7 [Gene - OMIM - HGNC]
  • OTULINL:OTU deubiquitinase with linear linkage specificity like [Gene - HGNC]
  • OTULIN:OTU deubiquitinase with linear linkage specificity [Gene - OMIM - HGNC]
  • OTULIN-DT:OTULIN divergent transcript [Gene - HGNC]
  • ANKRD33B:ankyrin repeat domain 33B [Gene - HGNC]
  • BASP1:brain abundant membrane attached signal protein 1 [Gene - OMIM - HGNC]
  • CTNND2:catenin delta 2 [Gene - OMIM - HGNC]
  • DAP:death associated protein [Gene - OMIM - HGNC]
  • DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
  • LINC01194:long intergenic non-protein coding RNA 1194 [Gene - OMIM - HGNC]
  • MARCHF11:membrane associated ring-CH-type finger 11 [Gene - OMIM - HGNC]
  • MYO10:myosin X [Gene - OMIM - HGNC]
  • RETREG1:reticulophagy regulator 1 [Gene - OMIM - HGNC]
  • TRIO:trio Rho guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • ZNF622:zinc finger protein 622 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5p15.2-15.1
Genomic location:
Chr5: 10515035 - 17607385 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5p15.2-15.1(chr5:10515035-17607385)x1
HGVS:
NC_000005.9:g.(?_10515035)_(17607385_?)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
SCV000810031Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Apr 14, 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, SCV000810031.1

#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