NM_003921.5(BCL10):c.136dup (p.Ile46fs) AND Carcinoma of colon

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 8, 1999
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:: RCV000023308.6

Allele description [Variation Report for NM_003921.5(BCL10):c.136dup (p.Ile46fs)]

NM_003921.5(BCL10):c.136dup (p.Ile46fs)

Gene:

BCL10:BCL10 immune signaling adaptor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1p22.3

Genomic location:

Preferred name:

NM_003921.5(BCL10):c.136dup (p.Ile46fs)

HGVS:

NC_000001.11:g.85270835dup
NG_012216.2:g.11077dup
NM_001320715.2:c.136dup
NM_003921.5:c.136dupMANE SELECT
NP_001307644.1:p.Ile46fs
NP_003912.1:p.Ile46fs
LRG_1210t1:c.136dup
LRG_1210:g.11077dup
LRG_1210p1:p.Ile46fs
NC_000001.10:g.85736518dup
NG_012216.1:g.12073_12074insA
NG_012216.1:g.12073dup

Protein change:

I46fs

Links:

OMIM: 603517.0010; dbSNP: rs387906351

NCBI 1000 Genomes Browser:

rs387906351

Molecular consequence:

NM_001320715.2:c.136dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003921.5:c.136dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Carcinoma of colon (CRC)
Synonyms:: Colonic carcinoma; Colon carcinoma
Identifiers:: MONDO: MONDO:0002032; MedGen: C0699790

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044599	OMIM	no assertion criteria provided	Pathogenic (Jan 8, 1999)	somatic	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044599

OMIM

no assertion criteria provided

Pathogenic
(Jan 8, 1999)

somatic

literature only

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

Help

Summary from all submissions

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

Citations

PubMed

Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types.

Willis TG, Jadayel DM, Du MQ, Peng H, Perry AR, Abdul-Rauf M, Price H, Karran L, Majekodunmi O, Wlodarska I, Pan L, Crook T, Hamoudi R, Isaacson PG, Dyer MJ.

Cell. 1999 Jan 8;96(1):35-45.

PubMed [citation]

PMID:: 9989495

Details of each submission

From OMIM, SCV000044599.2

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

Description

In a cell line from a patient with T-cell acute lymphocytic leukemia (see 613065) and a cell line from a patient with colon cancer (114500), Willis et al. (1999) found a 136insA mutation causing a frameshift at codon 46 of BCL10.

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

Last Updated: Sep 16, 2024

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