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NM_003921.5(BCL10):c.428del (p.Phe143fs) AND Sezary syndrome

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:
RCV000006638.5

Allele description [Variation Report for NM_003921.5(BCL10):c.428del (p.Phe143fs)]

NM_003921.5(BCL10):c.428del (p.Phe143fs)

Gene:
BCL10:BCL10 immune signaling adaptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p22.3
Genomic location:
Preferred name:
NM_003921.5(BCL10):c.428del (p.Phe143fs)
HGVS:
  • NC_000001.11:g.85267903del
  • NG_012216.1:g.15000del
  • NG_012216.2:g.14004del
  • NM_001320715.2:c.395del
  • NM_003921.5:c.428delMANE SELECT
  • NP_001307644.1:p.Phe132fs
  • NP_003912.1:p.Phe143fs
  • LRG_1210t1:c.428del
  • LRG_1210:g.14004del
  • LRG_1210p1:p.Phe143fs
  • NC_000001.10:g.85733586del
  • NM_003921.4:c.428del
Protein change:
F132fs
Links:
OMIM: 603517.0011; dbSNP: rs587776632
NCBI 1000 Genomes Browser:
rs587776632
Molecular consequence:
  • NM_001320715.2:c.395del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003921.5:c.428del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Sezary syndrome
Synonyms:
Sezary's lymphoma; SEZARY SYNDROME, SOMATIC
Identifiers:
MONDO: MONDO:0017844; MedGen: C0036920

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026821OMIM
no assertion criteria provided
Pathogenic
(Jan 8, 1999) 		somaticliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature 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, SCV000026821.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a cell line from a patient with Sezary syndrome, Willis et al. (1999) found a 428delT mutation causing a frameshift at codon 143 of BCL10.

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

Last Updated: Apr 23, 2022