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

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 6, 2018
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:: RCV000681604.9

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:: 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:: Recombinase activating gene 2 deficiency
Synonyms:: RAG2 deficiency
Identifiers:: MONDO: MONDO:0000573; MedGen: CN257931

Name:: Inborn error of immunity
Synonyms:: Primary immunodeficiency; Inborn errors of immunity
Identifiers:: MONDO: MONDO:0003778; MedGen: C0398686

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000693952	Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Mar 6, 2018)	germline	research	PubMed (2) [See all records that cite these PMIDs] 16960852, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000693952

Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Mar 6, 2018)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

RAG-dependent primary immunodeficiencies.

Sobacchi C, Marrella V, Rucci F, Vezzoni P, Villa A.

Hum Mutat. 2006 Dec;27(12):1174-84. Review.

PubMed [citation]

PMID:: 16960852

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer, SCV000693952.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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