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NM_003921.5(BCL10):c.57+1G>A AND Immunodeficiency 37

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 3, 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:
RCV000148013.4

Allele description [Variation Report for NM_003921.5(BCL10):c.57+1G>A]

NM_003921.5(BCL10):c.57+1G>A

Genes:
BCL10:BCL10 immune signaling adaptor [Gene - OMIM - HGNC]
LOC126805771:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85741508-85742707 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.3
Genomic location:
Preferred name:
NM_003921.5(BCL10):c.57+1G>A
HGVS:
  • NC_000001.11:g.85276295C>T
  • NG_012216.2:g.5610G>A
  • NG_082095.1:g.571C>T
  • NM_001320715.2:c.57+1G>A
  • NM_003921.5:c.57+1G>AMANE SELECT
  • LRG_1210t1:c.57+1G>A
  • LRG_1210:g.5610G>A
  • NC_000001.10:g.85741978C>T
  • NM_003921.4:c.57+1G>A
Nucleotide change:
IVS1DS, G-A, +1
Links:
OMIM: 603517.0019; dbSNP: rs606231305
NCBI 1000 Genomes Browser:
rs606231305
Molecular consequence:
  • NM_001320715.2:c.57+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003921.5:c.57+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Immunodeficiency 37 (IMD37)
Identifiers:
MONDO: MONDO:0014491; MedGen: C4015195; OMIM: 616098

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000195513OMIM
no assertion criteria provided
Pathogenic
(Nov 3, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity.

Torres JM, Martinez-Barricarte R, García-Gómez S, Mazariegos MS, Itan Y, Boisson B, Rholvarez R, Jiménez-Reinoso A, del Pino L, Rodríguez-Pena R, Ferreira A, Hernández-Jiménez E, Toledano V, Cubillos-Zapata C, Díaz-Almirón M, López-Collazo E, Unzueta-Roch JL, Sánchez-Ramón S, Regueiro JR, López-Granados E, Casanova JL, Pérez de Diego R.

J Clin Invest. 2014 Dec;124(12):5239-48. doi: 10.1172/JCI77493. Epub 2014 Nov 3.

PubMed [citation]
PMID:
25365219
PMCID:
PMC4348943

Details of each submission

From OMIM, SCV000195513.2

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

Description

In a boy, born of consanguineous parents from Ecuador, with immunodeficiency-37 (IMD37; 616098), Torres et al. (2014) identified a homozygous G-to-A transition in intron 1 of the BCL10 gene (IVS+1G-A), resulting in a splice site defect and complete absence of the protein in patient cells. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was filtered against the 1000 Genomes Project and Exome Variant Server databases.

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

Last Updated: Jun 10, 2023