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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000793910	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Sep 12, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17572155, 19178939, 26457731 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000793910

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Sep 12, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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