Hi,
I am a researcher looking into the somatic genomic landscape of diffuse midline glioma (DMG).
There is a particular PPM1D frameshift variant (HGVSp
p.Pro428GlnfsTer3) that is known to be a somatic driver mutation, however, in gnomAD it is reported as AC0 from exome datasets and no reported in genome datasets.
I just wanted some advice on how to find the specific parameter values which determined AC0 status for this variant to see why it was classified as AC0.
Any help would be greatly appreciated.
Kind regards,
Izac.
Hello, happy to help. We have some information about the flag itself on our browser, at our page for gnomAD v4 annotations for our tables . In short, we must have seen it in exome samples that were later removed for having been low-confidence or not reliable, and not seen in any genotype samples of any quality.
And if you were asking about what specific metrics failed, I don’t believe our browser page for variants keeps records of the Genotype Quality Metrics (under ‘Genotype Quality Metrics’) for low-confidence samples, so I’m afraid we don’t have information beyond that.