POT1 c.702+8_702+9delinsTG

Hello, I had previously curated this variant and considered it benign. This was despite the variant’s absence from gnomAD v2.1 (7-124499002-AT-CA) and v4.1 (7-124858948-AT-CA), because the comprising SNVs had a very high frequency in gnomAD (v4.1: 7-124858949-T-A and 7-124858948-A-C), and review of the read data showed that at least a portion of these patients have the MNV, even in homozygosity. I’m not particularly concerned, but I did notice that there is a mild splicing prediction for the MNV to disrupt the canonical donor splice site. So to increase my confidence in the commonality of this variant, I tried to look at this data using the co-occurrence features in gnomAD v2. However, I got a message that stated that it is not possible to look at this for variants with a MAF>5%. Why is this not possible? If it’s not a feature on the website, is it possible to manually provide the assessment for this one MNV? Thanks in advance for any help you can provide! - NM