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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1and MSH2missense variants
Authors :
Loong, Lucy Cubuk, Cankut Choi, Subin Allen, Sophie Torr, Beth Garrett, Alice Loveday, Chey Durkie, Miranda Callaway, Alison Burghel, George J. Drummond, James Robinson, Rachel Berry, Ian R. Wallace, Andrew Eccles, Diana M. Tischkowitz, Marc Ellard, Sian Ware, James S. Hanson, Helen Turnbull, Clare Samant, S. Lucassen, A. Znaczko, A. Shaw, A. Ansari, A. Kumar, A. Donaldson, A. Murray, A. Ross, A. Taylor-Beadling, A. Taylor, A. Innes, A. Brady, A. Kulkarni, A. Hogg, A.-C. Bowden, A. Ramsay Hadonou, A. Coad, B. McIldowie, B. Speight, B. DeSouza, B. Mullaney, B. McKenna, C. Brewer, C. Olimpio, C. Clabby, C. Crosby, C. Jenkins, C. Armstrong, C. Bowles, C. Brooks, C. Byrne, C. Maurer, C. Baralle, D. Chubb, D. Stobo, D. Moore, D. O'Sullivan, D. Donnelly, D. Randhawa, D. Halliday, D. Atkinson, E. Baple, E. Rauter, E. Johnston, E. Woodward, E. Maher, E. Sofianopoulou, E. Petrides, E. Lalloo, F. McRonald, F. Pelz, F. Frayling, I. Evans, G. Corbett, G. Rea, G. Clouston, H. Powell, H. Williamson, H. Carley, H. Thomas, H.J.W. Tomlinson, I. Cook, J. Hoyle, J. Tellez, J. Whitworth, J. Williams, J. Murray, J. Campbell, J. Tolmie, J. Field, J. Mason, J. Burn, J. Bruty, J. Callaway, J. Grant, J. Del Rey Jimenez, J. Pagan, J. VanCampen, J. Barwell, J. Monahan, K. Tatton-Brown, K. Ong, K.-R. Murphy, K. Andrews, K. Mokretar, K. Cadoo, K. Smith, K. Baker, K. Brown, K. Reay, K. McKay Bounford, K. Bradshaw, K. Russell, K. Stone, K. Snape, K. Crookes, L. Reed, L. Taggart, L. Yarram, L. Cobbold, L. Walker, L. Walker, L. Hawkes, L. Busby, L. Izatt, L. Kiely, L. Hughes, L. Side, L. Sarkies, L. Greenhalgh, K.-L. Shanmugasundaram, M. Duff, M. Bartlett, M. Watson, M. Owens, M. Bradford, M. Huxley, M. Slean, M. Ryten, M. Smith, M. Ahmed, M. Roberts, N. O'Brien, C. Middleton, O. Tarpey, P. Logan, P. Dean, P. May, P. Brace, P. Tredwell, R. Harrison, R. Hart, R. Kirk, R. Martin, R. Nyanhete, R. Wright, R. Martin, R. Davidson, R. Cleaver, R. Talukdar, S. Butler, S. Sampson, J. Ribeiro, S. Dell, S. Mackenzie, S. Hegarty, S. Albaba, S. McKee, S. Palmer-Smith, S. Heggarty, S. MacParland, S. Greville-Heygate, S. Daniels, S. Prapa, S. Abbs, S. Tennant, S. Hardy, S. MacMahon, S. McVeigh, T. Foo, T. Bedenham, T. Cranston, T. McDevitt, T. Clowes, V. Tripathi, V. McConnell, V. Woodwaer, N. Wallis, Y. Kemp, Z. Mullan, G. Pierson, L. Rainey, L. Joyce, C. Timbs, A. Reuther, A.-M. Frugtniet, B. DeSouza, B. Husher, C. Lawn, C. Corbett, C. Nocera-Jijon, D. Reay, D. Cross, E. Ryan, F. Lindsay, H. Oliver, J. Dring, J. Spiers, J. Harper, J. Ciucias, K. Connolly, L. Tsang, M. Brown, R. Shepherd, S. Begum, S. Daniels, S. Tadiso, T. Linton-Willoughby, T. Heppell, H. Sahan, K. Worrillow, L. Allen, Z. Barlett, M. Watt, C. Hegarty, M.
Source :
Genetics in Medicine; March 2022, Vol. 24 Issue: 3 p552-563, 12p
Publication Year :
2022
Abstract
Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little evidence for variation in practice.
Details
Language :
English
ISSN :
10983600 and 15300366
Volume :
24
Issue :
3
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs58800161
Full Text :
https://doi.org/10.1016/j.gim.2021.11.011