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NM_015631.6(TCTN3):c.256+2_256+7del AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 4, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004719159.1

Allele description [Variation Report for NM_015631.6(TCTN3):c.256+2_256+7del]

NM_015631.6(TCTN3):c.256+2_256+7del

Genes:
LOC130004408:ATAC-STARR-seq lymphoblastoid active region 3801 [Gene]
TCTN3:tectonic family member 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q24.1
Genomic location:
Preferred name:
NM_015631.6(TCTN3):c.256+2_256+7del
HGVS:
  • NC_000010.11:g.95693639_95693644del
  • NG_032953.1:g.5502_5507del
  • NM_001143973.2:c.256+2_256+7del
  • NM_015631.6:c.256+2_256+7delMANE SELECT
  • NC_000010.10:g.97453394_97453399del
  • NC_000010.10:g.97453396_97453401del
  • NM_015631.6:c.256+2_256+7delTGAGGGMANE SELECT
Links:
dbSNP: rs1224169161
NCBI 1000 Genomes Browser:
rs1224169161
Molecular consequence:
  • NM_001143973.2:c.256+2_256+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_015631.6:c.256+2_256+7del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005326141GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jan 4, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV005326141.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024