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

Clinical significance:Pathogenic (Last evaluated: Oct 15, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000157861.4

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000207791GeneDxcriteria provided, single submitter
Pathogenic
(Oct 15, 2021)
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, SCV000207791.8

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

Description

Previously reported as a homozygous variant in leukemia cells of several children with juvenile myelomonocytic leukemia (JMML), however, it is not clear if these patients were heterozygous for this variant in the germline (Loh et al., 2009; Niemayer et al., 2010); 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); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32637631, 21901340, 19571318, 20694012, 20955399, 23823657, 28343148)

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

Last Updated: Nov 27, 2021

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