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NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 19, 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:
RCV000579006.9

Allele description [Variation Report for NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)]

NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)

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.2689C>T (p.Arg897Ter)
HGVS:
  • NC_000011.10:g.36575993C>T
  • NG_007528.1:g.12981C>T
  • NM_000448.3:c.2689C>TMANE SELECT
  • NM_001377277.1:c.2689C>T
  • NM_001377278.1:c.2689C>T
  • NM_001377279.1:c.2689C>T
  • NM_001377280.1:c.2689C>T
  • NP_000439.1:p.Arg897Ter
  • NP_000439.2:p.Arg897Ter
  • NP_001364206.1:p.Arg897Ter
  • NP_001364207.1:p.Arg897Ter
  • NP_001364208.1:p.Arg897Ter
  • NP_001364209.1:p.Arg897Ter
  • LRG_98t1:c.2689C>T
  • LRG_98:g.12981C>T
  • LRG_98p1:p.Arg897Ter
  • NC_000011.9:g.36597543C>T
  • NM_000448.2:c.2689C>T
Protein change:
R897*
Links:
dbSNP: rs757797994
NCBI 1000 Genomes Browser:
rs757797994
Molecular consequence:
  • NM_000448.3:c.2689C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377277.1:c.2689C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377278.1:c.2689C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377279.1:c.2689C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377280.1:c.2689C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000680577GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 19, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000680577.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R897X nonsense variant has been reported previously in association with SCID (Schwarz et al., 1996; Buchbinder et al. (2015). This variant is predicted to cause loss of normal protein function through protein truncation, as the last 147 amino acids of the protein are lost. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.

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

Last Updated: Oct 26, 2024