NM_005188.4(CBL):c.2503C>T (p.Arg835Trp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 22, 2013
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:: RCV000157869.2

Allele description [Variation Report for NM_005188.4(CBL):c.2503C>T (p.Arg835Trp)]

NM_005188.4(CBL):c.2503C>T (p.Arg835Trp)

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.2503C>T (p.Arg835Trp)

Other names:

p.R835W:CGG>TGG

HGVS:

NC_000011.10:g.119299563C>T
NG_016808.1:g.98284C>T
NM_005188.4:c.2503C>TMANE SELECT
NP_005179.2:p.Arg835Trp
LRG_608:g.98284C>T
NC_000011.9:g.119170273C>T
NM_005188.2:c.2503C>T

Protein change:

R835W

Links:

dbSNP: rs368696716

Molecular consequence:

NM_005188.4:c.2503C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000207799	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (May 22, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000207799

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(May 22, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000207799.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is denoted p.Arg835Trp at the protein level, c.2503C>T at the cDNA level, and results in the change of an Arginine for a Tryptophan (CGG>TGG) in exon 16 of the CBL gene (NM_005188.2). The R835W missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This missense change is a non-conservative amino acid substitution with a positively charged and polar residue (Arg) being replaced by a neutral and non-polar residue (Trp). The residue at which this substitution occurs is highly conserved in the protein. However, no missense mutations have been reported in the CBL gene beyond codon Arginine 420 (Martinelli et al., 2010). The R835W variant was not observed at any significant frequency in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Therefore, R835W is interpreted as a variant of unknown significance. The variant is found in NOONAN panel(s).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 15, 2026

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