ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.264A>G (p.Lys88=) (rs370920665)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213935 SCV000270323 likely benign not specified 2015-10-13 criteria provided, single submitter clinical testing p.Lys88Lys in Exon 03 of KRAS: 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. It has been identified in 8/16432 South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org).
Illumina Clinical Services Laboratory,Illumina RCV000369643 SCV000377751 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000586846 SCV000513423 benign not provided 2018-05-21 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586846 SCV000699771 benign not provided 2017-08-10 criteria provided, single submitter clinical testing Variant summary: The KRAS c.264A>G (p.Lys88Lys) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change, located in the P-loop containing nucleoside triphosphate hydrolase domain (IPR027417) (InterPro). One in silico tool predicts a damaging outcome for this variant. 4/5 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 the large control database ExAC in 21/120432 control chromosomes at a frequency of 0.0001744, which is approximately 14 times the estimated maximal expected allele frequency of a pathogenic KRAS variant (0.0000125), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported as a germline variant in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000213935 SCV000707276 likely benign not specified 2017-03-24 criteria provided, single submitter clinical testing
Invitae RCV000586846 SCV001000726 benign not provided 2018-11-13 criteria provided, single submitter clinical testing
Invitae RCV001512187 SCV001719552 benign Rasopathy 2020-08-14 criteria provided, single submitter clinical testing

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