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NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) AND Severe combined immunodeficiency, B cell-negative

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000014016.25

Allele description [Variation Report for NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)]

NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)

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.644C>T (p.Thr215Ile)
Other names:
W215I; NM_000536.4(RAG2):c.644C>T; p.Thr215Ile
HGVS:
  • NC_000011.10:g.36593525G>A
  • NG_007573.1:g.9712C>T
  • NG_033154.1:g.4033G>A
  • NM_000536.4:c.644C>TMANE SELECT
  • NM_001243785.2:c.644C>T
  • NM_001243786.2:c.644C>T
  • NP_000527.2:p.Thr215Ile
  • NP_001230714.1:p.Thr215Ile
  • NP_001230715.1:p.Thr215Ile
  • LRG_99:g.9712C>T
  • NC_000011.9:g.36615075G>A
  • NM_000536.3:c.644C>T
  • NM_001243786.1:c.644C>T
Protein change:
T215I; TRP215ILE
Links:
OMIM: 179616.0007; dbSNP: rs35691292
NCBI 1000 Genomes Browser:
rs35691292
Molecular consequence:
  • NM_000536.4:c.644C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243785.2:c.644C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243786.2:c.644C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on catalytic protein function [Variation Ontology: 0008]

Condition(s)

Name:
Severe combined immunodeficiency, B cell-negative
Identifiers:
MedGen: C1867362

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034263OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2004) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.

Tabori U, Mark Z, Amariglio N, Etzioni A, Golan H, Biloray B, Toren A, Rechavi G, Dalal I.

Clin Genet. 2004 Apr;65(4):322-6.

PubMed [citation]
PMID:
15025726

Details of each submission

From OMIM, SCV000034263.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with T cell-negative/B cell-negative SCID (601457), Tabori et al. (2004) identified an 1845C-T transition in the RAG2 gene, resulting in a trp215-to-ile (W215I) change.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024