학술논문

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1and MSH2missense variants
Document Type
Article
Author
Loong, LucyCubuk, CankutChoi, SubinAllen, SophieTorr, BethGarrett, AliceLoveday, CheyDurkie, MirandaCallaway, AlisonBurghel, George J.Drummond, JamesRobinson, RachelBerry, Ian R.Wallace, AndrewEccles, Diana M.Tischkowitz, MarcEllard, SianWare, James S.Hanson, HelenTurnbull, ClareSamant, 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. RamsayHadonou, 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
Subject
Language
ISSN
10983600; 15300366
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.