U.S. flag

An official website of the United States government

NM_000448.3(RAG1):c.1682G>A (p.Arg561His) AND Histiocytic medullary reticulosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 29, 1998
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:
RCV000014025.19

Allele description [Variation Report for NM_000448.3(RAG1):c.1682G>A (p.Arg561His)]

NM_000448.3(RAG1):c.1682G>A (p.Arg561His)

Gene:
RAG1:recombination activating 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p12
Genomic location:
Preferred name:
NM_000448.3(RAG1):c.1682G>A (p.Arg561His)
HGVS:
  • NC_000011.10:g.36574986G>A
  • NG_007528.1:g.11974G>A
  • NM_000448.3:c.1682G>AMANE SELECT
  • NM_001377277.1:c.1682G>A
  • NM_001377278.1:c.1682G>A
  • NM_001377279.1:c.1682G>A
  • NM_001377280.1:c.1682G>A
  • NP_000439.1:p.Arg561His
  • NP_000439.2:p.Arg561His
  • NP_001364206.1:p.Arg561His
  • NP_001364207.1:p.Arg561His
  • NP_001364208.1:p.Arg561His
  • NP_001364209.1:p.Arg561His
  • LRG_98t1:c.1682G>A
  • LRG_98:g.11974G>A
  • LRG_98p1:p.Arg561His
  • NC_000011.9:g.36596536G>A
  • NM_000448.2:c.1682G>A
  • P15918:p.Arg561His
Protein change:
R561H; ARG561HIS
Links:
UniProtKB: P15918#VAR_008889; OMIM: 179615.0005; dbSNP: rs104894284
NCBI 1000 Genomes Browser:
rs104894284
Molecular consequence:
  • NM_000448.3:c.1682G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377277.1:c.1682G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377278.1:c.1682G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377279.1:c.1682G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377280.1:c.1682G>A - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034272OMIM
no assertion criteria provided
Pathogenic
(May 29, 1998) 		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

Partial V(D)J recombination activity leads to Omenn syndrome.

Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E.

Cell. 1998 May 29;93(5):885-96.

PubMed [citation]
PMID:
9630231

Details of each submission

From OMIM, SCV000034272.3

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

Description

Villa et al. (1998) found an arg561-to-his (R561H) mutation in homozygous state in a patient with Omenn syndrome (603554). This mutation occurs in a domain implicated in RAG1/RAG2 interaction.

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

Last Updated: Sep 29, 2024