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NM_000448.3(RAG1):c.1137del (p.His379fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 24, 2024
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:
RCV005051315.1

Allele description [Variation Report for NM_000448.3(RAG1):c.1137del (p.His379fs)]

NM_000448.3(RAG1):c.1137del (p.His379fs)

Gene:
RAG1:recombination activating 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p12
Genomic location:
Preferred name:
NM_000448.3(RAG1):c.1137del (p.His379fs)
HGVS:
  • NC_000011.10:g.36574441del
  • NG_007528.1:g.11429del
  • NM_000448.3:c.1137delMANE SELECT
  • NM_001377277.1:c.1137del
  • NM_001377278.1:c.1137del
  • NM_001377279.1:c.1137del
  • NM_001377280.1:c.1137del
  • NP_000439.1:p.His379Glnfs
  • NP_000439.2:p.His379fs
  • NP_001364206.1:p.His379fs
  • NP_001364207.1:p.His379fs
  • NP_001364208.1:p.His379fs
  • NP_001364209.1:p.His379fs
  • LRG_98t1:c.1137del
  • LRG_98:g.11429del
  • LRG_98p1:p.His379Glnfs
  • NC_000011.9:g.36595991del
  • NM_000448.2:c.1137delC
Protein change:
H379fs
Links:
dbSNP: rs756384834
NCBI 1000 Genomes Browser:
rs756384834
Molecular consequence:
  • NM_000448.3:c.1137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377277.1:c.1137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377278.1:c.1137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377279.1:c.1137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377280.1:c.1137del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Combined immunodeficiency due to partial RAG1 deficiency
Identifiers:
MONDO: MONDO:0012359; MedGen: C1835931; Orphanet: 231154; OMIM: 609889
Name:
Combined immunodeficiency with skin granulomas
Identifiers:
MONDO: MONDO:0009306; MedGen: C2673536; OMIM: 233650
Name:
Histiocytic medullary reticulosis
Synonyms:
SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA; Omenn syndrome
Identifiers:
MONDO: MONDO:0011338; MedGen: C2700553; Orphanet: 39041; OMIM: 603554
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; SCID, AR, T-cell negative, B-cell negative, NK cell-positive; Severe combined immunodeficiency due to complete RAG1/2 deficiency
Identifiers:
MONDO: MONDO:0011086; MedGen: C1832322; Orphanet: 331206; OMIM: 601457

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005683459Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 24, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV005683459.1

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

Last Updated: May 16, 2025