{"id":1579,"date":"2020-11-21T18:50:42","date_gmt":"2020-11-21T18:50:42","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1579"},"modified":"2026-02-23T23:13:01","modified_gmt":"2026-02-23T23:13:01","slug":"combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/11\/21\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\/","title":{"rendered":"Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations (Contributed by Dr. Alice Garrett)"},"content":{"rendered":"<p>Standardization of practice in classification of variants in cancer susceptibility genes has improved substantially since UK adoption of the 2015 American College of Medical Genetics (ACMG) framework. However, considerable inconsistency between laboratories persists, largely around how evidence items are weighted and combined. We present consensus recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK), our national subspecialty multidisciplinary network, on which evidence types are legitimate to combine and how to deal with conflicting evidence. We also include a simple \u2018exponent-scoring system\u2019 enabling flexible consistent evidence item combination, based on prior exposition by Tavtigian et al (2018) of the ACMG variant framework as Bayesian in structure. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/11\/17\/jmedgenet-2020-107248\">https:\/\/jmg.bmj.com\/content\/early\/2020\/11\/17\/jmedgenet-2020-107248<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/11\/21\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\/untitled-39\/\" rel=\"attachment wp-att-1580\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1580\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/11\/Untitled-300x109.jpg\" alt=\"\" width=\"300\" height=\"109\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/11\/Untitled-300x109.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/11\/Untitled-1024x371.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/11\/Untitled-768x278.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/11\/Untitled-1536x556.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/11\/Untitled-2048x742.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/11\/Untitled-640x232.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Standardization of practice in classification of variants in cancer susceptibility genes has improved substantially since UK adoption of the 2015 American College of Medical Genetics (ACMG) framework. However, considerable inconsistency between laboratories persists, largely around how evidence items are weighted and combined. We present consensus recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK), our national [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/11\/21\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1579","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations (Contributed by Dr. Alice Garrett) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/11\/21\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations (Contributed by Dr. Alice Garrett) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Standardization of practice in classification of variants in cancer susceptibility genes has improved substantially since UK adoption of the 2015 American College of Medical Genetics (ACMG) framework. However, considerable inconsistency between laboratories persists, largely around how evidence items are weighted and combined. We present consensus recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK), our national [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/11\/21\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-11-21T18:50:42+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:13:01+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/11\/Untitled-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"927\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/11\\\/21\\\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/11\\\/21\\\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations (Contributed by Dr. Alice Garrett)\",\"datePublished\":\"2020-11-21T18:50:42+00:00\",\"dateModified\":\"2026-02-23T23:13:01+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/11\\\/21\\\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\\\/\"},\"wordCount\":130,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/11\\\/21\\\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/11\\\/Untitled-300x109.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/11\\\/21\\\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/11\\\/21\\\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/11\\\/21\\\/combining-evidence-for-and-against-pathogenicity-for-variants-in-cancer-susceptibility-genes-canvig-uk-consensus-recommendations\\\/\",\"name\":\"Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations (Contributed by Dr. Alice Garrett) - 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