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GRCh37/hg19 4p16.3(chr4:68345-694966)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 2017
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:
RCV000847202.2

Allele description [Variation Report for GRCh37/hg19 4p16.3(chr4:68345-694966)x1]

GRCh37/hg19 4p16.3(chr4:68345-694966)x1

Genes:
  • ATP5ME:ATP synthase membrane subunit e [Gene - OMIM - HGNC]
  • MYL5:myosin light chain 5 [Gene - OMIM - HGNC]
  • PIGG:phosphatidylinositol glycan anchor biosynthesis class G [Gene - OMIM - HGNC]
  • PDE6B:phosphodiesterase 6B [Gene - OMIM - HGNC]
  • SLC49A3:solute carrier family 49 member 3 [Gene - HGNC]
  • ZNF141:zinc finger protein 141 [Gene - OMIM - HGNC]
  • ZNF595:zinc finger protein 595 [Gene - HGNC]
  • ZNF718:zinc finger protein 718 [Gene - HGNC]
  • ZNF721:zinc finger protein 721 [Gene - HGNC]
  • ZNF732:zinc finger protein 732 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
4p16.3
Genomic location:
Chr4: 68345 - 694966 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4p16.3(chr4:68345-694966)x1
HGVS:
NC_000004.11:g.(?_68345)_(694966_?)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
SCV000989324Bionano Laboratories
no assertion criteria provided
Uncertain significance
(Dec 6, 2017) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Bionano Laboratories, SCV000989324.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providedBuccalnot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022