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NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) AND Combined immunodeficiency with skin granulomas

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 8, 2008
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:
RCV000014044.24

Allele description [Variation Report for NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln)]

NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln)

Gene:
RAG1:recombination activating 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p12
Genomic location:
Preferred name:
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln)
HGVS:
  • NC_000011.10:g.36575637G>A
  • NG_007528.1:g.12625G>A
  • NM_000448.3:c.2333G>AMANE SELECT
  • NM_001377277.1:c.2333G>A
  • NM_001377278.1:c.2333G>A
  • NM_001377279.1:c.2333G>A
  • NM_001377280.1:c.2333G>A
  • NP_000439.1:p.Arg778Gln
  • NP_000439.2:p.Arg778Gln
  • NP_001364206.1:p.Arg778Gln
  • NP_001364207.1:p.Arg778Gln
  • NP_001364208.1:p.Arg778Gln
  • NP_001364209.1:p.Arg778Gln
  • LRG_98t1:c.2333G>A
  • LRG_98:g.12625G>A
  • LRG_98p1:p.Arg778Gln
  • NC_000011.9:g.36597187G>A
  • NM_000448.2:c.2333G>A
  • P15918:p.Arg778Gln
Protein change:
R778Q; ARG778GLN
Links:
UniProtKB: P15918#VAR_045958; OMIM: 179615.0020; dbSNP: rs121918569
NCBI 1000 Genomes Browser:
rs121918569
Molecular consequence:
  • NM_000448.3:c.2333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377277.1:c.2333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377278.1:c.2333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377279.1:c.2333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377280.1:c.2333G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Combined immunodeficiency with skin granulomas
Identifiers:
MONDO: MONDO:0009306; MedGen: C2673536; OMIM: 233650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034291OMIM
no assertion criteria provided
Pathogenic
(May 8, 2008) 		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

An immunodeficiency disease with RAG mutations and granulomas.

Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, Schneider DT, Manfras B, Pannicke U, Willemze R, Knüchel R, Göbel U, Schulz A, Borkhardt A, Friedrich W, Schwarz K, Niehues T.

N Engl J Med. 2008 May 8;358(19):2030-8. doi: 10.1056/NEJMoa073966.

PubMed [citation]
PMID:
18463379

Details of each submission

From OMIM, SCV000034291.2

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

Description

In a child with combined cellular and humoral immune defects associated with granulomas (CCHIDG; 233650), Schuetz et al. (2008) identified compound heterozygosity for 2 mutations in the RAG1 gene: arg778-to-gln (R778Q) and arg975-to-trp (R975W; 179615.0021). The patient developed severe infections in infancy and later developed skin, tongue, and lung lesions consistent with noninfectious granulomas. Immunophenotyping showed low numbers of B and T cells. In vitro functional expression studies showed that the mutant proteins had significantly impaired function.

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

Last Updated: May 16, 2025