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NM_005188.4(CBL):c.1027C>T (p.Arg343Ter) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 7, 2023
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:
RCV003442963.1

Allele description [Variation Report for NM_005188.4(CBL):c.1027C>T (p.Arg343Ter)]

NM_005188.4(CBL):c.1027C>T (p.Arg343Ter)

Gene:
CBL:Cbl proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_005188.4(CBL):c.1027C>T (p.Arg343Ter)
HGVS:
  • NC_000011.10:g.119277776C>T
  • NG_016808.1:g.76497C>T
  • NM_005188.3:c.1027C>T
  • NM_005188.4:c.1027C>TMANE SELECT
  • NP_005179.2:p.Arg343Ter
  • LRG_608t1:c.1027C>T
  • LRG_608:g.76497C>T
  • NC_000011.9:g.119148486C>T
  • NM_005188.2:c.1027C>T
Protein change:
R343*
Links:
dbSNP: rs765471101
NCBI 1000 Genomes Browser:
rs765471101
Molecular consequence:
  • NM_005188.4:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004169975GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 7, 2023) 		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, SCV004169975.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 35173275)

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

Last Updated: Nov 10, 2024