NM_005188.4(CBL):c.1096-1G>C AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 5, 2026
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:: RCV001789707.5

Allele description [Variation Report for NM_005188.4(CBL):c.1096-1G>C]

NM_005188.4(CBL):c.1096-1G>C

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.1096-1G>C

Other names:

NM_005188.4:c.1096-1G>C

HGVS:

NC_000011.10:g.119278165G>C
NG_016808.1:g.76886G>C
NM_005188.4:c.1096-1G>CMANE SELECT
LRG_608t1:c.1096-1G>C
LRG_608:g.76886G>C
NC_000011.9:g.119148875G>C
NM_005188.2:c.1096-1G>C
NM_005188.3:c.1096-1G>C
c.1096-1G>C

Links:

dbSNP: rs397517076

Molecular consequence:

NM_005188.4:c.1096-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV002032106	MutSpliceDB: a database of splice sites variants effects on splicing, NIH	no classification provided		not applicable	in vivo
SCV007673963	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Feb 5, 2026)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002032106

MutSpliceDB: a database of splice sites variants effects on splicing, NIH

no classification provided

not applicable

in vivo

SCV007673963

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Feb 5, 2026)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From MutSpliceDB: a database of splice sites variants effects on splicing, NIH, SCV002032106.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vivo	not provided

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

From GeneDx, SCV007673963.1

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

Description

Observed as a germline variant in patients with juvenile myelomonocytic leukemia and/or CBL-related Noonan syndrome-like disorder in published literature, including an apparently de novo observation (PMID: 31935506, 20694012); RNA studies demonstrate a that the variant results in several aberrant splice isoforms including partial or full loss of exon 8 as well as inclusion of intron 7 (PMID: 20694012); Canonical splice site variant in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28589114, 25525159, 26152360, 22266821, 20619386, 25952305, 19571318, 20543203, 23823657, 25358541, 24523240, 32978145, 20694012, 31275557, 41189001, 38633130, 39123476, 22315494, 31935506)

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

Last Updated: Sep 13, 2026

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