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NM_017679.5(BCAS3):c.2029+4_2029+7del AND Global developmental delay

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 12, 2021
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:
RCV001391655.2

Allele description [Variation Report for NM_017679.5(BCAS3):c.2029+4_2029+7del]

NM_017679.5(BCAS3):c.2029+4_2029+7del

Genes:
BCAS3-AS1:BCAS3 antisense RNA 1 [Gene - HGNC]
BCAS3:BCAS3 microtubule associated cell migration factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_017679.5(BCAS3):c.2029+4_2029+7del
HGVS:
  • NC_000017.11:g.61040896_61040899del
  • NM_001099432.3:c.2074+4_2074+7del
  • NM_001320470.3:c.2029+4_2029+7del
  • NM_001330413.2:c.2074+4_2074+7del
  • NM_001330414.2:c.2029+4_2029+7del
  • NM_001353144.2:c.2164+4_2164+7del
  • NM_001353145.2:c.2119+4_2119+7del
  • NM_001353146.2:c.2074+4_2074+7del
  • NM_017679.5:c.2029+4_2029+7delMANE SELECT
  • NC_000017.10:g.59118257_59118260del
Links:
dbSNP: rs2145620702
NCBI 1000 Genomes Browser:
rs2145620702
Molecular consequence:
  • NM_001099432.3:c.2074+4_2074+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001320470.3:c.2029+4_2029+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330413.2:c.2074+4_2074+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330414.2:c.2029+4_2029+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001353144.2:c.2164+4_2164+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001353145.2:c.2119+4_2119+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001353146.2:c.2074+4_2074+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_017679.5:c.2029+4_2029+7del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001470703Section for Clinical Neurogenetics, University of Tübingen
no assertion criteria provided
Likely pathogenic
(Jan 12, 2021) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Section for Clinical Neurogenetics, University of Tübingen, SCV001470703.1

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

Last Updated: Jun 23, 2024