NM_005188.4(CBL):c.2350G>A (p.Val784Met) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 8, 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:: RCV000033370.3

Allele description [Variation Report for NM_005188.4(CBL):c.2350G>A (p.Val784Met)]

NM_005188.4(CBL):c.2350G>A (p.Val784Met)

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.2350G>A (p.Val784Met)

HGVS:

NC_000011.10:g.119298456G>A
NG_016808.1:g.97177G>A
NM_005188.4:c.2350G>AMANE SELECT
NP_005179.2:p.Val784Met
NP_005179.2:p.Val784Met
LRG_608t1:c.2350G>A
LRG_608:g.97177G>A
LRG_608p1:p.Val784Met
NC_000011.9:g.119169166G>A
NM_005188.2:c.2350G>A
NM_005188.3:c.2350G>A

Protein change:

V784M

Links:

dbSNP: rs140725852

NCBI 1000 Genomes Browser:

rs140725852

Molecular consequence:

NM_005188.4:c.2350G>A - 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
SCV000057275	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jun 8, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057275

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jun 8, 2015)

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, SCV000057275.13

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

Description

The V784M missense change in the CBL gene has been reported previously in association with Noonan spectrum disorder (Lepri et al., 2014). It was not observed at any significant frequency in approximately 6,400 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. V784M is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

#	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: Nov 24, 2024

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