ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.-160A>G (rs727503111)

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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 RCV001030081 SCV001192873 benign Rasopathy 2019-11-04 reviewed by expert panel curation The c.-160A>G variant in KRAS is classified as benign because it has been identified in 0.22088% (95% CI of 27/8628) of African alleles in gnomAD (BA1; https://gnomad.broadinstitute.org). This variant is not located within the splice consensus sequence and computational splice site prediction tools do not predict an impact on splicing (BP4, BP7). ACMG/AMP Criteria applied: BA1, BP4, BP7.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150899 SCV000198484 likely benign not specified 2010-09-27 criteria provided, single submitter clinical testing The -160A>G variant in KRAS has not been previously reported in the literature n or been identified by our laboratory. This variant occurs in the 5' UTR of the g ene. Although mutations in 5' UTRs of genes have been shown to affect gene regul ation, no pathogenic mutations in the 5' UTR of KRAS have been reported to date. Therefore, this variant is likely benign, although we cannot rule out that it could contribute to the clinical features observed in this individual.
Illumina Clinical Services Laboratory,Illumina RCV000357915 SCV000377757 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing

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