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GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1 AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 10, 2019
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:
RCV001259927.1

Allele description [Variation Report for GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1]

GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1

Genes:
  • WWC1:WW and C2 domain containing 1 [Gene - OMIM - HGNC]
  • RARS1:arginyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • C5orf58:chromosome 5 open reading frame 58 [Gene - HGNC]
  • DOCK2:dedicator of cytokinesis 2 [Gene - OMIM - HGNC]
  • FOXI1:forkhead box I1 [Gene - OMIM - HGNC]
  • INSYN2B:inhibitory synaptic factor family member 2B [Gene - HGNC]
  • LCP2:lymphocyte cytosolic protein 2 [Gene - OMIM - HGNC]
  • MIR103A1:microRNA 103a-1 [Gene - OMIM - HGNC]
  • PANK3:pantothenate kinase 3 [Gene - OMIM - HGNC]
  • KCNMB1:potassium calcium-activated channel subfamily M regulatory beta subunit 1 [Gene - OMIM - HGNC]
  • KCNIP1:potassium voltage-gated channel interacting protein 1 [Gene - OMIM - HGNC]
  • SLIT3:slit guidance ligand 3 [Gene - OMIM - HGNC]
  • SPDL1:spindle apparatus coiled-coil protein 1 [Gene - OMIM - HGNC]
  • TENM2:teneurin transmembrane protein 2 [Gene - OMIM - HGNC]
  • LOC100128059:uncharacterized LOC100128059 [Gene]
Variant type:
copy number loss
Cytogenetic location:
5q34-35.1
Genomic location:
Chr5: 166378793 - 170174830 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1
HGVS:
NC_000005.9:g.(?_166378793)_(170174830_?)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
SCV001436896Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Likely pathogenic
(Aug 10, 2019) 		germlineclinical testing

Help

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, SCV001436896.1

#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