{"id":7255,"date":"2024-02-08T21:14:58","date_gmt":"2024-02-08T21:14:58","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7255"},"modified":"2026-06-22T16:28:54","modified_gmt":"2026-06-22T16:28:54","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 class=\"wp-block-heading\">Criterios de Patogenicidad de la ACMG (American College of Medical Genetics and Genomics)<\/h2>\n\n\n\n<p>Los criterios establecidos por el ACMG y la AMP (Association for Molecular Pathology) gu\u00edan la clasificaci\u00f3n e interpretaci\u00f3n cl\u00ednica de variantes gen\u00e9ticas identificadas en estudios moleculares:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n    <li><strong>Patog\u00e9nica:<\/strong> Evidencia cient\u00edfica abrumadora que demuestra que la variante causa la enfermedad.<\/li>\n    <li><strong>Probablemente Patog\u00e9nica:<\/strong> Alta probabilidad (>90%) de que la variante sea causal.<\/li>\n    <li><strong>Variante de Significado Incierto (VUS\/VSI):<\/strong> No hay evidencia suficiente para clasificarla como benigna o patog\u00e9nica.<\/li>\n    <li><strong>Probablemente Benigna:<\/strong> Alta probabilidad de que la variante no est\u00e9 relacionada con la enfermedad.<\/li>\n    <li><strong>Benigna:<\/strong> Evidencia de que la variante es un polimorfismo com\u00fan sin impacto cl\u00ednico pat\u00f3geno.<\/li>\n<\/ul>","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: Pathogenic: Overwhelming scientific evidence demonstrating that the variant causes the disease. Probably Pathogenic: High probability\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\"> \u00abCriterios de patogenicidad de la ACMG.\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":5,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7255\/revisions"}],"predecessor-version":[{"id":8285,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7255\/revisions\/8285"}],"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}]}}