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NM_000536.4(RAG2):c.1504A>G (p.Met502Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 12, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000669183.9

Allele description [Variation Report for NM_000536.4(RAG2):c.1504A>G (p.Met502Val)]

NM_000536.4(RAG2):c.1504A>G (p.Met502Val)

Gene:
RAG2:recombination activating 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p12
Genomic location:
Preferred name:
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
HGVS:
  • NC_000011.10:g.36592665T>C
  • NG_007573.1:g.10572A>G
  • NG_033154.1:g.3173T>C
  • NM_000536.4:c.1504A>GMANE SELECT
  • NM_001243785.2:c.1504A>G
  • NM_001243786.2:c.1504A>G
  • NP_000527.2:p.Met502Val
  • NP_001230714.1:p.Met502Val
  • NP_001230715.1:p.Met502Val
  • LRG_99:g.10572A>G
  • NC_000011.9:g.36614215T>C
  • NM_000536.3:c.1504A>G
  • NM_001243785.1:c.1504A>G
Protein change:
M502V
Links:
dbSNP: rs145614809
NCBI 1000 Genomes Browser:
rs145614809
Molecular consequence:
  • NM_000536.4:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243785.2:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243786.2:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Combined immunodeficiency with skin granulomas
Synonyms:
Combined cellular and humoral immune defects with granulomas
Identifiers:
MONDO: MONDO:0009306; MedGen: C2673536; OMIM: 233650
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
Name:
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Synonyms:
SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; SCID, AR, T-cell negative, B-cell negative, NK cell-positive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011086; MedGen: C1832322; Orphanet: 331206; OMIM: 601457

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000793910Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Sep 12, 2017) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

Haq IJ, Steinberg LJ, Hoenig M, van der Burg M, Villa A, Cant AJ, Middleton PG, Gennery AR.

Clin Immunol. 2007 Aug;124(2):165-9. Epub 2007 Jun 14.

PubMed [citation]
PMID:
17572155

Novel presentation of Omenn syndrome in association with aniridia.

Sheehan WJ, Delmonte OM, Miller DT, Roberts AE, Bonilla FA, Morra M, Giliani S, Pai SY, Notarangelo LD, Oettgen HC.

J Allergy Clin Immunol. 2009 Apr;123(4):966-9. doi: 10.1016/j.jaci.2008.12.007. No abstract available.

PubMed [citation]
PMID:
19178939
PMCID:
PMC2688768
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000793910.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024