Description
Published functional studies demonstrate at least an intermediate impact on kinase activity in human cell-based assays and mixed results in yeast studies (Roeb et al., 2012; Delimitsou et al., 2019; Kleiblova et al., 2019; Stolarova et al., 2023); Observed in individuals with early-onset and/or familial breast cancer and/or colorectal cancer (Le Calvez-Kelm et al., 2011; Roeb et al., 2012; Tung et al., 2015; Lolas Hamameh et al., 2017; Xie et al., 2018; Girard et al., 2019; Akcay et al., 2020; Kwong et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 37239058, 30128536, 32805687, 30322717, 31118792, 21244692, 26787654, 26681312, 27751358, 28580595, 28301460, 25186627, 28486781, 30851065, 31050813, 30303537, 32068069, 32860008, 33050356, 32658311, 29922827, 33471991, 35264596, 37449874, 16794575, 22419737, 19782031, 36521553)
# | 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 |