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NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs) AND Monoclonal B-Cell Lymphocytosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000208622.1

Allele description [Variation Report for NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs)]

NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs)

Gene:
NOTCH2:notch receptor 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p12
Genomic location:
Preferred name:
NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs)
HGVS:
  • NC_000001.11:g.119915818dup
  • NG_008163.1:g.158841dup
  • NM_024408.4:c.6909dupMANE SELECT
  • NP_077719.2:p.Ile2304Hisfs
  • NP_077719.2:p.Ile2304fs
  • NC_000001.10:g.120458441dup
  • NM_024408.3:c.6909dupC
  • NP_077719.2:p.Ile2304HisfsTer9
Protein change:
I2304fs
Links:
dbSNP: rs771237928
NCBI 1000 Genomes Browser:
rs771237928
Molecular consequence:
  • NM_024408.4:c.6909dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Monoclonal B-Cell Lymphocytosis
Identifiers:
MedGen: C2698259

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258944Karsan Lab, BC Cancer Agency - BCCA Personal OncoGenomics
no assertion criteria provided
Pathogenic
(Dec 15, 2015) 		somaticresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.

Kiel MJ, Velusamy T, Betz BL, Zhao L, Weigelin HG, Chiang MY, Huebner-Chan DR, Bailey NG, Yang DT, Bhagat G, Miranda RN, Bahler DW, Medeiros LJ, Lim MS, Elenitoba-Johnson KS.

J Exp Med. 2012 Aug 27;209(9):1553-65. doi: 10.1084/jem.20120910. Epub 2012 Aug 13.

PubMed [citation]
PMID:
22891276
PMCID:
PMC3428949

The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development.

Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, et al.

J Exp Med. 2012 Aug 27;209(9):1537-51. doi: 10.1084/jem.20120904. Epub 2012 Aug 13.

PubMed [citation]
PMID:
22891273
PMCID:
PMC3428941

Details of each submission

From Karsan Lab, BC Cancer Agency - BCCA Personal OncoGenomics, SCV000258944.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 13, 2023