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Our aim is to propose a reassignment for a recurrent <jats:italic>MEN1<\/jats:italic> genetic variant found in a 54\u2010year\u2010old male patient with bilateral pheochromocytoma and GH\u2010secreting PA. Pheo\/PGL genes study was carried out in DNA samples from Pheo as well as PA and no pathological variants or large deletions were detected. Additionally, a <jats:italic>MEN1<\/jats:italic> gene analysis was performed, and a heterozygous germline variant in exon 10: c.1618C&gt;T; p.(Pro540Ser) was found. No <jats:italic>MEN1<\/jats:italic> gene deletions\/duplications were detected. In evaluating a causal relationship between the c.1618C&gt;T <jats:italic>MEN1<\/jats:italic> variant and both tumors, we took into account that missense variants are common pathogenic variants in <jats:italic>MEN1<\/jats:italic>, and the population frequency of this variant is too high to be considered pathogenic. His son (aged 38 and carrier) is asymptomatic, and computational analysis showed discrepancies. We propose that this recurrent variant, previously considered as likely pathogenic, subsequently as variant of uncertain significance, and likely benign should now be reclassified as benign.<\/jats:p>","DOI":"10.1002\/ajmg.a.62444","type":"journal-article","created":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T10:48:00Z","timestamp":1627382880000},"page":"3872-3876","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The recurrent p.(<scp>Pro540Ser<\/scp>) <scp><i>MEN1<\/i><\/scp> genetic variant should be considered nonpathogenic: A case report"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3836-2096","authenticated-orcid":false,"given":"Carles","family":"Villabona","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Hospital Universitari de Bellvitge  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josep","family":"Oriola","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics, CDB, Hospital Clinic  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Serrano","sequence":"additional","affiliation":[{"name":"Department of Pathology, Hospital Universitari de Bellvitge  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Guerrero\u2010P\u00e9rez","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Hospital Universitari de Bellvitge  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuria","family":"Vald\u00e9s","sequence":"additional","affiliation":[{"name":"Institute of Sanitary Research of Asturias, Institute of Oncology of Asturias (IUOPA), CIBERONC, Hospital Central de Asturias Universidad de Oviedo  Oviedo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maril\u00f3","family":"Chiara","sequence":"additional","affiliation":[{"name":"Institute of Sanitary Research of Asturias, Institute of Oncology of Asturias (IUOPA), CIBERONC, Hospital Central de Asturias Universidad de Oviedo  Oviedo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mercedes","family":"Robledo","sequence":"additional","affiliation":[{"name":"Hereditary Endocrine Cancer Group, Spanish National Cancer Centre  Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers11050683"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200390023"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-12-0763"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2017.04.009"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1067\/msy.2099.101376"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1668"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-3399"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2012.182246"},{"key":"e_1_2_9_10_1","first-page":"6","article-title":"Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old","volume":"24","author":"Falchetti A.","year":"2017","journal-title":"F1000 Research"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11102-017-0789-7"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejim.2019.08.005"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1952.tb13837.x"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3892\/ol.2014.2144"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1590\/2359-3997000000299"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00268-002-6492-4"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-14-0897"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/jso.23157"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1530\/ERC-15-0241"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2012.101"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23746"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-006-0009-0"},{"key":"e_1_2_9_23_1","first-page":"6","article-title":"Progress in the diagnosis and classification of pituitary adenomas","volume":"12","author":"Syro L. 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