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NM_000536.3(RAG2):c.1352G>C (p.Gly451Ala)

Variation ID: Help
13138
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Pathogenic(2);Uncertain significance(1)
Last evaluated:
Mar 6, 2018
Number of submission(s):
3
Condition(s):
  • Combined cellular and humoral immune defects with granulomas [MedGen - OMIM]
  • Combined immunodeficiency with skin granulomas [MedGen - Orphanet]
  • Recombinase activating gene 2 deficiency [MedGen]
  • Primary immunodeficiency [MedGen - Orphanet]
See supporting ClinVar records

Allele(s) Help

NM_000536.3(RAG2):c.1352G>C (p.Gly451Ala)

Allele ID:
28177
Variant type:
single nucleotide variant
Cytogenetic location:
11p12
Genomic location:
  • Chr11: 36592817 (on Assembly GRCh38)
  • Chr11: 36614367 (on Assembly GRCh37)
Protein change:
G451A
HGVS:
  • NG_007573.1:g.10420G>C
  • NM_000536.3:c.1352G>C
  • NP_000527.2:p.Gly451Ala
  • NC_000011.10:g.36592817C>G (GRCh38)
  • LRG_99t1:c.1352G>C
  • NC_000011.9:g.36614367C>G (GRCh37)
  • NM_000536.2:c.1352G>C
  • P55895:p.Gly451Ala
  • LRG_99p1:p.Gly451Ala
  • LRG_99:g.10420G>C
Links:
NCBI 1000 Genomes Browser:
rs121918575
Molecular consequence:
NM_000536.3:c.1352G>C: missense variant [Sequence Ontology SO:0001583]
Functional consequence:
effect on catalytic protein function [Variation Ontology: 0008]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00004
  • The Genome Aggregation Database (gnomAD) 0.00003
  • The Genome Aggregation Database (gnomAD), exomes 0.00004
  • Trans-Omics for Precision Medicine (TOPMed) 0.00016

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
Pathogenic
(Jul 26, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000616851.2
    Uncertain significance
    (Mar 6, 2018)
    criteria provided, single submitter
    researchgermlinePediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomerSCV000693945.1
    Pathogenic
    (May 8, 2008)
    no assertion criteria providedliterature only
    • Combined cellular and humoral immune defects with granulomas[MedGen | OMIM]
    germlineOMIMSCV000034267.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe G451A variant has been rep…Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomernot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Jun 4, 2019

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