NM_005188.4(CBL):c.1228-2A>G AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 6, 2022
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:: RCV000157861.6

Allele description [Variation Report for NM_005188.4(CBL):c.1228-2A>G]

NM_005188.4(CBL):c.1228-2A>G

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.1228-2A>G

HGVS:

NC_000011.10:g.119278508A>G
NG_016808.1:g.77229A>G
NM_005188.4:c.1228-2A>GMANE SELECT
LRG_608t1:c.1228-2A>G
LRG_608:g.77229A>G
NC_000011.9:g.119149218A>G
NM_005188.2:c.1228-2A>G
NM_005188.3:c.1228-2A>G

Nucleotide change:

IVS8AS, A-G, -2

Links:

OMIM: 165360.0006; dbSNP: rs727504426

NCBI 1000 Genomes Browser:

rs727504426

Molecular consequence:

NM_005188.4:c.1228-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000207791	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000207791

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 6, 2022)

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, SCV000207791.10

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

Description

Identified as homozygous in peripheral blood of patients with juvenile myelomonocytic leukemia (JMML). In one patient with additional features of poor growth and developmental delay, variant was heterozygous in normal tissues and presumed to be germline (Loh et al., 2009; Niemayer et al., 2010).; Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant predicted to result in an in-frame deletion of a critical region (part of RING-Type zinc finger and linker region); This variant is associated with the following publications: (PMID: 32637631, 21901340, 20694012, 20955399, 23823657, 28343148, 34026204, 20619386, 22315494, 19571318)

#	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 20, 2024

ClinVar

Relating variation to medicine