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NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) 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:
RCV000681576.1

Allele description [Variation Report for NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)]

NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)

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.193G>T (p.Asp65Tyr)
Other names:
NM_000536.4(RAG2):c.193G>T; p.Asp65Tyr
HGVS:
  • NC_000011.10:g.36593976C>A
  • NG_007573.1:g.9261G>T
  • NG_033154.1:g.4484C>A
  • NM_000536.4:c.193G>TMANE SELECT
  • NM_001243785.2:c.193G>T
  • NM_001243786.2:c.193G>T
  • NP_000527.2:p.Asp65Tyr
  • NP_001230714.1:p.Asp65Tyr
  • NP_001230715.1:p.Asp65Tyr
  • LRG_99:g.9261G>T
  • NC_000011.9:g.36615526C>A
  • NM_000536.3:c.193G>T
Protein change:
D65Y
Links:
dbSNP: rs909264507
NCBI 1000 Genomes Browser:
rs909264507
Molecular consequence:
  • NM_000536.4:c.193G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243785.2:c.193G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243786.2:c.193G>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on catalytic protein function [Variation Ontology: 0008]

Condition(s)

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
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
SCV000693924Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer
criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

Dalal I, Tasher D, Somech R, Etzioni A, Garti BZ, Lev D, Cohen S, Somekh E, Leshinsky-Silver E.

Clin Immunol. 2011 Sep;140(3):284-90. doi: 10.1016/j.clim.2011.04.011. Epub 2011 May 7.

PubMed [citation]
PMID:
21624848

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, SCV000693924.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024