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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 24, 2023
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:
RCV003323561.2

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:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004028710Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 24, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004028710.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024