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RAG1, 1-BP DEL, 887A AND Histiocytic medullary reticulosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 19, 2000
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:
RCV000014036.19

Allele description

RAG1, 1-BP DEL, 887A

Gene:
RAG1:recombination activating 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p13
Preferred name:
RAG1, 1-BP DEL, 887A
HGVS:
    Nucleotide change:
    1-BP DEL, 887A
    Links:
    OMIM: 179615.0014

    Condition(s)

    Name:
    Histiocytic medullary reticulosis
    Synonyms:
    Omenn syndrome; Reticuloendotheliosis familial with eosinophilia; Severe combined immunodeficiency with hypereosinophilia
    Identifiers:
    MONDO: MONDO:0011338; MedGen: C2700553; Orphanet: 39041; OMIM: 603554

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000034283OMIM
    no assertion criteria provided
    		Pathogenic
    (Dec 19, 2000)     		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

    N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.

    Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S, Cortes P, Vezzoni P, Villa A.

    Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14572-7.

    PubMed [citation]
    PMID:
    11121059
    PMCID:
    PMC18960

    Details of each submission

    From OMIM, SCV000034283.3

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

    Description

    One of the 7 patients with Omenn syndrome (603554) in whom Santagata et al. (2000) found N-terminal RAG1 frameshift mutations with internal methionine usage leading to partial V(D)J recombination activity was homozygous for a 1-bp deletion (A) at nucleotide 887 of the RAG1 gene, resulting in a frameshift at ser258 and the addition of 4 amino acids before a stop.

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

    Last Updated: Apr 23, 2022