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NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 30, 2014
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:
RCV000486567.3

Allele description [Variation Report for NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp)]

NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp)

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.2442G>T (p.Glu814Asp)
Other names:
NM_000448.3(RAG1):c.2442G>T; p.Glu814Asp
HGVS:
  • NC_000011.10:g.36575746G>T
  • NG_007528.1:g.12734G>T
  • NM_000448.3:c.2442G>TMANE SELECT
  • NM_001377277.1:c.2442G>T
  • NM_001377278.1:c.2442G>T
  • NM_001377279.1:c.2442G>T
  • NM_001377280.1:c.2442G>T
  • NP_000439.1:p.Glu814Asp
  • NP_000439.2:p.Glu814Asp
  • NP_001364206.1:p.Glu814Asp
  • NP_001364207.1:p.Glu814Asp
  • NP_001364208.1:p.Glu814Asp
  • NP_001364209.1:p.Glu814Asp
  • LRG_98t1:c.2442G>T
  • LRG_98:g.12734G>T
  • LRG_98p1:p.Glu814Asp
  • NC_000011.9:g.36597296G>T
  • NM_000448.2:c.2442G>T
Protein change:
E814D
Links:
dbSNP: rs768860215
NCBI 1000 Genomes Browser:
rs768860215
Molecular consequence:
  • NM_000448.3:c.2442G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377277.1:c.2442G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377278.1:c.2442G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377279.1:c.2442G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377280.1:c.2442G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000565475GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Dec 30, 2014) 		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, SCV000565475.3

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

Description

This novel E814D variant has not been published as pathogenic, nor has it been reported as a benign polymorphism to our knowledge. The E814D variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external varianat database, indicating it is not a common benign variant in these populations. The E814D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across vertebrate species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Functional studies indicate that RAG1 protein with a mutation in the same residue, E814A, has reduced activity as compared with wild-type RAG1 protein (Fugmann et al., 2000). Therefore, this is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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

Last Updated: Sep 29, 2024