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

Variation ID: Help
68690
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):
2
Condition(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:
79582
Variant type:
single nucleotide variant
Cytogenetic location:
11p12
Genomic location:
  • Chr11: 36575562 (on Assembly GRCh38)
  • Chr11: 36597112 (on Assembly GRCh37)
Protein change:
H753L
HGVS:
  • 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
Links:
NCBI 1000 Genomes Browser:
rs199474687
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

Germline

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]
germlineInvitaeSCV000815179.1
not providedno assertion providedliterature onlynot provided
    UniProtKB/Swiss-ProtSCV000091103.1
    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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