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NM_005188.4(CBL):c.1384C>T (p.Arg462Ter) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 18, 2015
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:
RCV000386480.2

Allele description [Variation Report for NM_005188.4(CBL):c.1384C>T (p.Arg462Ter)]

NM_005188.4(CBL):c.1384C>T (p.Arg462Ter)

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.1384C>T (p.Arg462Ter)
HGVS:
  • NC_000011.10:g.119278666C>T
  • NG_016808.1:g.77387C>T
  • NM_005188.4:c.1384C>TMANE SELECT
  • NP_005179.2:p.Arg462Ter
  • LRG_608t1:c.1384C>T
  • LRG_608:g.77387C>T
  • NC_000011.9:g.119149376C>T
  • NM_005188.2:c.1384C>T
  • NM_005188.3:c.1384C>T
Protein change:
R462*
Links:
dbSNP: rs886041425
NCBI 1000 Genomes Browser:
rs886041425
Molecular consequence:
  • NM_005188.4:c.1384C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000330066GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 18, 2015) 		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, SCV000330066.7

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

Description

The R462X variant in the CBL gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R462X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R462X as a variant of uncertain significance

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

Last Updated: Mar 5, 2024