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GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1 AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000509218.1

Allele description [Variation Report for GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1]

GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1

Genes:
  • ALG11:ALG11 alpha-1,2-mannosyltransferase [Gene - OMIM - HGNC]
  • ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
  • NEK3:NIMA related kinase 3 [Gene - OMIM - HGNC]
  • NEK5:NIMA related kinase 5 [Gene - OMIM - HGNC]
  • SUGT1:SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Gene - OMIM - HGNC]
  • UTP14C:UTP14C small subunit processome component [Gene - OMIM - HGNC]
  • WDFY2:WD repeat and FYVE domain containing 2 [Gene - OMIM - HGNC]
  • CNMD:chondromodulin [Gene - OMIM - HGNC]
  • CCDC70:coiled-coil domain containing 70 [Gene - HGNC]
  • CKAP2:cytoskeleton associated protein 2 [Gene - OMIM - HGNC]
  • DHRS12:dehydrogenase/reductase 12 [Gene - OMIM - HGNC]
  • FAM124A:family with sequence similarity 124 member A [Gene - HGNC]
  • HNRNPA1L2:heterogeneous nuclear ribonucleoprotein A1 like 2 [Gene - HGNC]
  • INTS6:integrator complex subunit 6 [Gene - OMIM - HGNC]
  • LINC00558:long intergenic non-protein coding RNA 558 [Gene - HGNC]
  • OLFM4:olfactomedin 4 [Gene - OMIM - HGNC]
  • PCDH8:protocadherin 8 [Gene - OMIM - HGNC]
  • SERPINE3:serpin family E member 3 [Gene - HGNC]
  • THSD1:thrombospondin type 1 domain containing 1 [Gene - OMIM - HGNC]
  • VPS36:vacuolar protein sorting 36 homolog [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
13q14.3
Genomic location:
Chr13: 51691675 - 54851616 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1
HGVS:
NC_000013.10:g.(51691675_51786657)_(54834098_54851616)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607196GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607196.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023