ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.981C>T (p.Asn327=) (rs143275018)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039499 SCV000063188 benign not specified 2011-06-09 criteria provided, single submitter clinical testing Asn327Asn in exon 8 of MEK2: This variant is not expected to have clinical or pa thological significance because it does not alter an amino acid residue and is n ot located near a splice junction. This variant has been identified in 2/732 (0. 2%) of Caucasian probands tested by our laboratory; one of those individuals als o had a pathogenic RAF1 variant.
Invitae RCV000590665 SCV000561661 likely benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590665 SCV000699650 benign not provided 2017-08-10 criteria provided, single submitter clinical testing Variant summary: The MAP2K2 c.981C>T (p.Asn327Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 14/119582 control chromosomes at a frequency of 0.0001171, which is approximately 47 times the estimated maximal expected allele frequency of a pathogenic MAP2K2 variant (0.0000025), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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