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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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000207791GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Jun 6, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000207791.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024