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NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter) AND Combined immunodeficiency due to partial RAG1 deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2017
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:
RCV001253457.1

Allele description [Variation Report for NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter)]

NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter)

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.2749C>T (p.Gln917Ter)
HGVS:
  • NC_000011.10:g.36576053C>T
  • NG_007528.1:g.13041C>T
  • NM_000448.3:c.2749C>TMANE SELECT
  • NM_001377277.1:c.2749C>T
  • NM_001377278.1:c.2749C>T
  • NM_001377279.1:c.2749C>T
  • NM_001377280.1:c.2749C>T
  • NP_000439.2:p.Gln917Ter
  • NP_001364206.1:p.Gln917Ter
  • NP_001364207.1:p.Gln917Ter
  • NP_001364208.1:p.Gln917Ter
  • NP_001364209.1:p.Gln917Ter
  • LRG_98t1:c.2749C>T
  • LRG_98:g.13041C>T
  • NC_000011.9:g.36597603C>T
  • NM_000448.2:c.2749C>T
Protein change:
Q917*
Links:
dbSNP: rs1850845029
NCBI 1000 Genomes Browser:
rs1850845029
Molecular consequence:
  • NM_000448.3:c.2749C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377277.1:c.2749C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377278.1:c.2749C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377279.1:c.2749C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377280.1:c.2749C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Combined immunodeficiency due to partial RAG1 deficiency
Synonyms:
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Identifiers:
MONDO: MONDO:0012359; MedGen: C1835931; Orphanet: 231154; OMIM: 609889

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001429171Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001429171.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022