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GRCh37/hg19 5q33.3-34(chr5:159714197-161313217)x1 AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 29, 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:
RCV001005749.1

Allele description [Variation Report for GRCh37/hg19 5q33.3-34(chr5:159714197-161313217)x1]

GRCh37/hg19 5q33.3-34(chr5:159714197-161313217)x1

Genes:
  • ATP10B:ATPase phospholipid transporting 10B (putative) [Gene - OMIM - HGNC]
  • C1QTNF2:C1q and TNF related 2 [Gene - OMIM - HGNC]
  • PTTG1:PTTG1 regulator of sister chromatid separation, securin [Gene - OMIM - HGNC]
  • SLU7:SLU7 homolog, splicing factor [Gene - OMIM - HGNC]
  • CCNJL:cyclin J like [Gene - HGNC]
  • GABRA1:gamma-aminobutyric acid type A receptor subunit alpha1 [Gene - OMIM - HGNC]
  • GABRA6:gamma-aminobutyric acid type A receptor subunit alpha6 [Gene - OMIM - HGNC]
  • GABRB2:gamma-aminobutyric acid type A receptor subunit beta2 [Gene - OMIM - HGNC]
  • MIR146A:microRNA 146a [Gene - OMIM - HGNC]
  • ZBED8:zinc finger BED-type containing 8 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5q33.3-34
Genomic location:
Chr5: 159714197 - 161313217 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5q33.3-34(chr5:159714197-161313217)x1
HGVS:
NC_000005.9:g.(?_159714197)_(161313217_?)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
SCV001165295Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Likely pathogenic
(May 29, 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, SCV001165295.1

#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