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NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) AND Combined immunodeficiency with skin granulomas

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 7, 2021
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:
RCV001795396.2

Allele description [Variation Report for NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg)]

NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg)

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.2459A>G (p.Lys820Arg)
Other names:
NM_000448.3(RAG1):c.2459A>G
HGVS:
  • NC_000011.10:g.36575763A>G
  • NG_007528.1:g.12751A>G
  • NM_000448.3:c.2459A>GMANE SELECT
  • NM_001377277.1:c.2459A>G
  • NM_001377278.1:c.2459A>G
  • NM_001377279.1:c.2459A>G
  • NM_001377280.1:c.2459A>G
  • NP_000439.1:p.Lys820Arg
  • NP_000439.2:p.Lys820Arg
  • NP_001364206.1:p.Lys820Arg
  • NP_001364207.1:p.Lys820Arg
  • NP_001364208.1:p.Lys820Arg
  • NP_001364209.1:p.Lys820Arg
  • LRG_98t1:c.2459A>G
  • LRG_98:g.12751A>G
  • LRG_98p1:p.Lys820Arg
  • NC_000011.9:g.36597313A>G
  • NM_000448.2:c.2459A>G
  • P15918:p.Lys820Arg
Protein change:
K820R
Links:
UniProtKB: P15918#VAR_008892; dbSNP: rs2227973
NCBI 1000 Genomes Browser:
rs2227973
Molecular consequence:
  • NM_000448.3:c.2459A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377277.1:c.2459A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377278.1:c.2459A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377279.1:c.2459A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377280.1:c.2459A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Combined immunodeficiency with skin granulomas
Synonyms:
Combined cellular and humoral immune defects with granulomas
Identifiers:
MONDO: MONDO:0009306; MedGen: C2673536; OMIM: 233650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002033423Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Nov 7, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

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 Genome-Nilou Lab, SCV002033423.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024