NM_005188.4(CBL):c.1111T>C (p.Tyr371His) AND Hematologic neoplasm

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 26, 2014
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:: RCV000437548.1

Allele description [Variation Report for NM_005188.4(CBL):c.1111T>C (p.Tyr371His)]

NM_005188.4(CBL):c.1111T>C (p.Tyr371His)

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.1111T>C (p.Tyr371His)

HGVS:

NC_000011.10:g.119278181T>C
NG_016808.1:g.76902T>C
NM_005188.4:c.1111T>CMANE SELECT
NP_005179.2:p.Tyr371His
NP_005179.2:p.Tyr371His
LRG_608t1:c.1111T>C
LRG_608:g.76902T>C
LRG_608p1:p.Tyr371His
NC_000011.9:g.119148891T>C
NM_005188.2:c.1111T>C
NM_005188.3:c.1111T>C
P22681:p.Tyr371His

Protein change:

Y371H; TYR371HIS

Links:

UniProtKB: P22681#VAR_071042; OMIM: 165360.0005; dbSNP: rs267606706

NCBI 1000 Genomes Browser:

rs267606706

Molecular consequence:

NM_005188.4:c.1111T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hematologic neoplasm
Synonyms:: Hematologic cancer; Hematological neoplasm; Hematological malignancies
Identifiers:: MeSH: D019337; MedGen: C0376545; Human Phenotype Ontology: HP:0004377

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nlp-15 Neuropeptide-Like Protein [Caenorhabditis elegans]
nlp-15 Neuropeptide-Like Protein [Caenorhabditis elegans]
Gene ID:173174

Gene
F07G11.2 Methyltransferase FkbM domain-containing protein [Caenorhabditis elegan...
F07G11.2 Methyltransferase FkbM domain-containing protein [Caenorhabditis elegans]
Gene ID:184157

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000505199	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (Dec 26, 2014)	somatic	literature only	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

SCV000505199

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(Dec 26, 2014)

somatic

literature only

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

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN.

Javadi M, Richmond TD, Huang K, Barber DL.

J Biol Chem. 2013 Jul 5;288(27):19459-70. doi: 10.1074/jbc.M113.475087. Epub 2013 May 21.

PubMed [citation]

PMID:: 23696637
PMCID:: PMC3707649

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505199.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Oct 8, 2024

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