ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.420C>T (p.Asp140=) (rs369925884)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000521680 SCV000616582 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.420C>T (p.Asp140=) variant in the MAP2K2 gene is 0.271% (32/8604) of East Asian 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)
GeneDx RCV000039481 SCV000513521 benign not specified 2015-06-08 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.
Integrated Genetics/Laboratory Corporation of America RCV000587230 SCV000699637 benign not provided 2016-11-14 criteria provided, single submitter clinical testing Variant summary: The MAP2K2 c.420C>T (p.Asp140Asp) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 45/121454 control chromosomes (1 homozygote) at a frequency of 0.0003705, which is approximately 148 times the estimated maximal expected allele frequency of a pathogenic MAP2K2 variant (0.0000025), suggesting this variant is likely a benign polymorphism. The variant has been reported in patients/families with metachondromatosis, autism and carcinoma of large intestine, without strong evidence for pathogenicity (COSMIC, Bowen_2011, Kelleher_2012). In addition, multiple clinical diagnostic laboratories have classified this variant as benign. Taken together, this variant is classified as Benign.
Invitae RCV000521680 SCV000776924 benign Rasopathy 2017-11-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039481 SCV000063168 benign not specified 2009-06-26 no assertion criteria provided clinical testing
PreventionGenetics RCV000039481 SCV000314687 benign not specified criteria provided, single submitter clinical testing

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