NM_005188.4(CBL):c.1096-1G>C AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 26, 2017
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:: RCV000624342.3

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

NCBI 1000 Genomes Browser:

rs397517076

Molecular consequence:

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

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742135	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Jan 26, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742135

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Jan 26, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Unknown	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Starý J, van den Heuvel-Eibrink MM, Hasle H, Locatelli F, et al.

Nat Genet. 2010 Sep;42(9):794-800. doi: 10.1038/ng.641. Epub 2010 Aug 8.

PubMed [citation]

PMID:: 20694012
PMCID:: PMC4297285

Details of each submission

From Ambry Genetics, SCV000742135.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Unknown	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jan 3, 2026

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