ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.246C>T (p.Asn82=)

gnomAD frequency: 0.00013  dbSNP: rs150942310
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039474 SCV000063159 likely benign not specified 2014-02-04 criteria provided, single submitter clinical testing Asn82Asn in exon 2 of MAP2K2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, it is not located with in the splice consensus sequence, and it has been identified in 2/8600 European American chromosomes from a large population study by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; rs150942310).
GeneDx RCV000039474 SCV000207954 benign not specified 2014-08-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002054764 SCV002397969 likely benign RASopathy 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453321 SCV002738267 likely benign Cardiovascular phenotype 2022-08-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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