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NM_014709.4(USP34):c.8048-1053_8840+1025del AND Chromosome 2p16.1-p15 deletion syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 19, 2020
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:
RCV001376115.2

Allele description [Variation Report for NM_014709.4(USP34):c.8048-1053_8840+1025del]

NM_014709.4(USP34):c.8048-1053_8840+1025del

Gene:
USP34:ubiquitin specific peptidase 34 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p15
Genomic location:
Preferred name:
NM_014709.4(USP34):c.8048-1053_8840+1025del
HGVS:
  • NC_000002.12:g.61210747_61215747del
  • NM_014709.4:c.8048-1053_8840+1025delMANE SELECT
  • NC_000002.11:g.61437882_61442882del
Molecular consequence:
  • NM_014709.4:c.8048-1053_8840+1025del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_014709.4:c.8048-1053_8840+1025del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Chromosome 2p16.1-p15 deletion syndrome
Synonyms:
2p15-16.1 microdeletion syndrome
Identifiers:
MONDO: MONDO:0012916; MedGen: C2675875; Orphanet: 261349; OMIM: 612513

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441631Shieh Lab, University of California, San Francisco
no assertion criteria provided
Pathogenic
(Oct 19, 2020) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Shieh Lab, University of California, San Francisco, SCV001441631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024