PMC:6174355 / 34062-34939 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6174355","sourcedb":"PMC","sourceid":"6174355","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6174355","text":"While it is difficult to provide “universal” MAF thresholds, the ACMG does recommend using MAF data as a key filter in their guidelines for variant interpretation. We deem a MAF ≥ 0.5% to be incompatible with a classification of P/LP for hereditary hearing loss aside from specific cases such as variants in GJB2 and SLC26A4, and we use this threshold to automatically classify any variant as B (Table S2).16 It is important to note that with the availability of new datasets from large-population sequencing projects such as gnomAD, MAF for some variants will change, which in turn may affect their clinical significance. While using a universal MAF cutoff is beneficial, for a common disease such as deafness this filter aided in classifying only 4% of coding variants as benign, illustrating that MAF cutoffs and rarity alone are not sufficient to determine deleteriousness.","tracks":[{"project":"2_test","denotations":[{"id":"30245029-25262649-2047669","span":{"begin":406,"end":408},"obj":"25262649"}],"attributes":[{"subj":"30245029-25262649-2047669","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#ceec93","default":true}]}]}}