ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.451-14T>C

gnomAD frequency: 0.00014  dbSNP: rs372508498
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000523549 SCV000616403 likely benign RASopathy 2017-04-03 reviewed by expert panel curation The c.451-14T>C variant in KRAS has been seen in 3 cases undergoing RASopathy panel testing (PS4 not met; LMM, GeneDx internal data; GTR ID: 26957, 21766; ClinVar SCV000170023.9, SCV000198459.4) is an intronic variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). Computational prediction tools and conservation analysis suggest that the variant does not impact the protein (BP4). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP4, BP7.
GeneDx RCV000150885 SCV000170023 benign not specified 2014-04-23 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150885 SCV000198459 likely benign not specified 2013-07-17 criteria provided, single submitter clinical testing 451-14T>C in intron 06 of KRAS: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence and ha s been identified in 0.05% (4/8570) of European American chromosomes by the NHLB I Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Invitae RCV000523549 SCV002362103 likely benign RASopathy 2023-10-14 criteria provided, single submitter clinical testing

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