ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.303+8C>G (rs199612401)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000520093 SCV000616584 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.303+8C>G variant in the MAP2K2 gene is 0.154% (22/9636) of African 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)
Integrated Genetics/Laboratory Corporation of America RCV000587724 SCV000699634 benign not provided 2016-10-10 criteria provided, single submitter clinical testing Variant summary: The MAP2K2 c.303+8C>G variant involves the alteration of a non-conserved intronic nucleotide with 3/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 24/115978 (1/4833), predominantly in the African cohort, 22/9636 (1/438), which exceeds the estimated maximal expected allele frequency for a pathogenic MAP2K2 variant of 1/400000. Therefore, suggesting the variant is a common polymorphism found in population(s) of African origin. In addition, the variant of interest has been cited by a clinical diagnostic laboratory as "benign." Therefore, the variant of interest has been classified as Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154642 SCV000204317 benign not specified 2014-07-24 criteria provided, single submitter clinical testing 303+8C>G in intron 2 of MEK2: This variant is not expected to have clinical sign ificance because it is not located within the splice consensus sequence and has been identified in 0.3% (15/4406) of African American chromosomes from a broad p opulation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EV S).

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