Description
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate partially functional transactivation and retained growth suppression activity (Campomenosi et al., 2001; Kato et al., 2003; Resnick et al., 2003; Monti et al., 2011; Giacomelli et al., 2018; Kotler et al., 2018); Identified in individuals with breast cancer, neuroblastoma, prostate cancer, or other tumors (Chompret et al., 2000; Yurgelun et al., 2015; Meric-Bernstam et al., 2016; Tung et al., 2016; Stoltze et al., 2018; Zeng et al., 2020; Lerner-Ellis et al., 2021; Maxwell et al., 2021); This variant is associated with the following publications: (PMID: 21674059, 15982667, 18059157, 18555592, 11429705, 12909720, 24324553, 10864200, 12917626, 26787237, 26976419, 29324801, 27276561, 29126202, 27895058, 27463065, 29979965, 32560038, 17606709, 21343334, 11920959, 27346245, 18559976, 22361592, 27323394, 24603336, 19913028, 28821955, 30720243, 30840781, 32318955, 31447099, 30450585, 30327374, 30224644, 26585234, 26230955, 25952993, 23246812, 22915647, 22186996, 21519010, 20972454, 20407015, 19171880, 18453682, 16818505, 12826609, 11896595, 28638988, 28597078, 31588562, 30823914, 11782540, 28387325, 25980754, 27680515, 26619011, 30675318, 27959731, 30352134, 33008098, 29058119, 34863587, 15510160, 32885271, 35647242)
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |