ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.31_32insGGC (p.Ala11delinsGlyPro)

dbSNP: rs1064796748
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485433 SCV000573790 pathogenic not provided 2017-02-24 criteria provided, single submitter clinical testing The c.31_32insGGC pathogenic variant in the KRAS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.31_32insGGC variant causes an in-frame deletion of one amino acid, Alanine 11, and insertion at the same location of two amino acids, Glycine and Proline, denoted p.Ala11delinsGlyPro. This amino acid change occurs at a position in the GTP-binding region that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The c.31_32insGGC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.31_32insGGC as a pathogenic variant.

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