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NM_005188.4(CBL):c.1228-10dup

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000045199.3
Variation ID:
45199
Description:
1bp duplication
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NM_005188.4(CBL):c.1228-10dup

Allele ID
54366
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119278498-119278499 (GRCh38) GRCh38 UCSC
11: 119149208-119149209 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.119278500dup
NC_000011.9:g.119149210dup
NM_005188.4:c.1228-10dup MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:119278498:TT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (TTT)

Allele frequency
-
Links
ClinGen: CA135699
dbSNP: rs397517078
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 22, 2019 RCV000038349.3
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000405234.1
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001511169.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CBL No evidence available No evidence available GRCh38
GRCh37
572 685

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Noonan-Like Syndrome Disorder
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000367759.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062021.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
1228-10_1228-9insT in intron 8 of CBL: This variant is not expected to have clin ical significance because it is not located within the splice consensus … (more)
Benign
(Oct 22, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362307.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: CBL c.1228-10dupT alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Rasopathy
Allele origin: germline
Invitae
Accession: SCV001718368.1
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Impact of genomic alterations on outcomes in myelofibrosis patients undergoing JAK1/2 inhibitor therapy. Spiegel JY Blood advances 2017 PMID: 29296819
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Arber DA Blood 2016 PMID: 27069254
Myeloid leukemia development in c-Cbl RING finger mutant mice is dependent on FLT3 signaling. Rathinam C Cancer cell 2010 PMID: 20951944
Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Sanada M Nature 2009 PMID: 19620960

Text-mined citations for rs397517078...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021