{"id":7255,"date":"2024-02-08T21:14:58","date_gmt":"2024-02-08T21:14:58","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7255"},"modified":"2026-09-04T03:48:21","modified_gmt":"2026-09-04T03:48:21","slug":"criterios-de-patogenicidad-de-la-acmg","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/criterios-de-patogenicidad-de-la-acmg\/","title":{"rendered":"ACMG pathogenicity criteria."},"content":{"rendered":"<h2>Pathogenicity Criteria of the ACMG (American College of Medical Genetics and Genomics)<\/h2>\n<p>The criteria established by the ACMG and the AMP (Association for Molecular Pathology) guide the classification and clinical interpretation of genetic variants identified in molecular studies. These criteria are essential to ensure that treatment and follow-up decisions are based on solid evidence.<\/p>\n<ul>\n<li><strong>Pathogenic:<\/strong> Overwhelming scientific evidence showing that the variant causes the disease. This criterion is applied when there is a direct and causal association between the variant and the clinical phenomenon.<\/li>\n<li><strong>Probably Pathogenic:<\/strong> High probability (&gt;90%) that the variant is causal. In this case, although there is no overwhelming evidence, the findings are consistent with a pathogenic relationship and the variant is considered very likely to contribute to the disease.<\/li>\n<li><strong>Variant of Uncertain Significance (VUS\/VSI):<\/strong> There is not enough evidence to classify it as benign or pathogenic. When the findings are ambiguous or cannot be interpreted with certainty, the variant is classified as VUS\/VSI.<\/li>\n<li><strong>Probably Benign:<\/strong> High probability that the variant is not related to the disease. Although there is evidence suggesting a possible relationship, this is less likely and requires further investigation to confirm its pathogenicity.<\/li>\n<li><strong>Benign:<\/strong> Evidence that the variant is a common polymorphism with no pathogenic clinical impact. This criterion is applied when the variant has not been associated with any disease and its presence in the genome is considered normal.<\/li>\n<\/ul>\n<p>In clinical practice, it is crucial to use these criteria to evaluate the relevance of identified genetic variants. Interpretation should be contextual, taking into account other factors such as family history, the context of the study, and additional findings.<\/p>","protected":false},"excerpt":{"rendered":"<p>ACMG (American College of Medical Genetics and Genomics) Pathogenicity Criteria The criteria established by the ACMG and the AMP (Association for Molecular Pathology) guide the classification and clinical interpretation of genetic variants identified in molecular studies. These criteria are fundamental to ensure that treatment and follow-up decisions are based on\u2026 <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/criterios-de-patogenicidad-de-la-acmg\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \u00abACMG pathogenicity criteria.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":7269,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-7255","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7255","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=7255"}],"version-history":[{"count":6,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7255\/revisions"}],"predecessor-version":[{"id":8632,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7255\/revisions\/8632"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/7269"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=7255"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=7255"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=7255"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}