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NM_000536.4(RAG2):c.583T>G (p.Tyr195Asp) AND multiple conditions

Germline classification:
Likely pathogenic (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:
RCV000681584.1

Allele description [Variation Report for NM_000536.4(RAG2):c.583T>G (p.Tyr195Asp)]

NM_000536.4(RAG2):c.583T>G (p.Tyr195Asp)

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.583T>G (p.Tyr195Asp)
HGVS:
  • NC_000011.10:g.36593586A>C
  • NG_007573.1:g.9651T>G
  • NG_033154.1:g.4094A>C
  • NM_000536.4:c.583T>GMANE SELECT
  • NM_001243785.2:c.583T>G
  • NM_001243786.2:c.583T>G
  • NP_000527.2:p.Tyr195Asp
  • NP_001230714.1:p.Tyr195Asp
  • NP_001230715.1:p.Tyr195Asp
  • LRG_99:g.9651T>G
  • NC_000011.9:g.36615136A>C
  • NM_000536.3:c.583T>G
Protein change:
Y195D
Links:
dbSNP: rs1479328926
NCBI 1000 Genomes Browser:
rs1479328926
Molecular consequence:
  • NM_000536.4:c.583T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243785.2:c.583T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243786.2:c.583T>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on catalytic protein function [Variation Ontology: 0008]

Condition(s)

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000693932Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 6, 2018) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

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, SCV000693932.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 17, 2022