ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.451-5518T>C

gnomAD frequency: 0.00004  dbSNP: rs752925099
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000610117 SCV000713191 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing The *4+8T>C variant in KRAS has not been previously reported in affected individ uals. This variant has been identified in 5/111504 European chromosomes by the G enome Aggregation Database (gnomAD, http://gnomAD.broadinstitute.org; dbSNP rs75 2925099). Please note that for diseases with clinical variability, reduced penet rance, or recessive inheritance, pathogenic variants may be present at a low fre quency in the general population. Conservation analysis suggest that the *4+8T>C variant may not impact the protein, though this information is not predictive e nough to rule out pathogenicity. Please note, this variant occurs near an altern ative transcript. Functional studies provide some evidence that mice lacking thi s alternate transcript are viable, fertile, and show no histopathological abnorm alities (Plowman 2003). In summary, the clinical significance of the *4+8T>C va riant is uncertain.

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