ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)

gnomAD frequency: 0.00076  dbSNP: rs139404261
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000458075 SCV000616580 benign RASopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.498C>T (p.Pro166=) variant in the MAP2K2 gene is 0.081% (37/33932) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039485 SCV000063173 likely benign not specified 2012-11-13 criteria provided, single submitter clinical testing Pro166Pro in exon 4 of MAP2K2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.13% (11/8600) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; dbSNP rs139404261).
PreventionGenetics, part of Exact Sciences RCV000039485 SCV000314690 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000458075 SCV000561660 benign RASopathy 2024-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726603 SCV000701758 uncertain significance not provided 2016-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000726603 SCV001939678 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813313 SCV002060577 benign Noonan syndrome and Noonan-related syndrome 2019-04-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726603 SCV002063706 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing MAP2K2: BP4, BP7
Ambry Genetics RCV002336106 SCV002643524 benign Cardiovascular phenotype 2020-11-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Clinical Genetics, Academic Medical Center RCV000039485 SCV001920797 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726603 SCV001967048 likely benign not provided no assertion criteria provided clinical testing

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