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NM_000448.2(RAG1):c.2258A>T (p.His753Leu)

Variation ID: Help
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Jun 6, 2018
Number of submission(s):
  • Combined cellular and humoral immune defects with granulomas [MedGen - OMIM]
  • Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive [MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000448.2(RAG1):c.2258A>T (p.His753Leu)

Allele ID:
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
  • Chr11: 36575562 (on Assembly GRCh38)
  • Chr11: 36597112 (on Assembly GRCh37)
Protein change:
  • NG_007528.1:g.12550A>T
  • NM_000448.2:c.2258A>T
  • NP_000439.1:p.His753Leu
  • NC_000011.10:g.36575562A>T (GRCh38)
  • LRG_98t1:c.2258A>T
  • NC_000011.9:g.36597112A>T (GRCh37)
  • P15918:p.His753Leu
  • LRG_98p1:p.His753Leu
  • LRG_98:g.12550A>T
NCBI 1000 Genomes Browser:
Molecular consequence:
NM_000448.2:c.2258A>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • The Genome Aggregation Database (gnomAD), exomes 0.00000
  • Trans-Omics for Precision Medicine (TOPMed) 0.00002

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details


Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Jun 6, 2018)
criteria provided, single submitter
clinical testing
  • Combined cellular and humoral immune defects with granulomas[MedGen | OMIM]
  • Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive[MedGen | Orphanet | OMIM]
not providedno assertion providedliterature onlynot provided
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, not providednot providednot provided
    Invitaenot providednot providedgermlinenot providednot providedThis sequence change replaces …Full description
    UniProtKB/Swiss-Protnot providednot providednot providednot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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