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NM_000536.4(RAG2):c.1504A>G (p.Met502Val) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 15, 2020
Review status:
criteria provided, conflicting classifications
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:
RCV001653875.17

Allele description [Variation Report for NM_000536.4(RAG2):c.1504A>G (p.Met502Val)]

NM_000536.4(RAG2):c.1504A>G (p.Met502Val)

Gene:
RAG2:recombination activating 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p12
Genomic location:
Preferred name:
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
HGVS:
  • NC_000011.10:g.36592665T>C
  • NG_007573.1:g.10572A>G
  • NG_033154.1:g.3173T>C
  • NM_000536.4:c.1504A>GMANE SELECT
  • NM_001243785.2:c.1504A>G
  • NM_001243786.2:c.1504A>G
  • NP_000527.2:p.Met502Val
  • NP_001230714.1:p.Met502Val
  • NP_001230715.1:p.Met502Val
  • LRG_99:g.10572A>G
  • NC_000011.9:g.36614215T>C
  • NM_000536.3:c.1504A>G
  • NM_001243785.1:c.1504A>G
Protein change:
M502V
Links:
dbSNP: rs145614809
NCBI 1000 Genomes Browser:
rs145614809
Molecular consequence:
  • NM_000536.4:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243785.2:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243786.2:c.1504A>G - 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
SCV000605000ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(May 15, 2020) 		germlineclinical testing

Citation Link,

SCV001864081GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Jan 16, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000605000.2

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

From GeneDx, SCV001864081.1

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

Description

This variant is associated with the following publications: (PMID: 17572155, 19178939, 26457731, 29772310, 16960852)

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

Last Updated: Oct 13, 2024