BRCA2 c.224C>G ;(p.A75G)

Variant ID: 13-32893370-C-G

NM_000059.3(BRCA2):c.224C>G;(p.A75G)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA2: A75G
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Polθ inhibitors elicit BRCA-gene synthetic lethality and target PARP inhibitor resistance.

Nature Communications
Zatreanu, Diana D; Robinson, Helen M R HMR; Alkhatib, Omar O; Boursier, Marie M; Finch, Harry H; Geo, Lerin L; Grande, Diego D; Grinkevich, Vera V; Heald, Robert A RA; Langdon, Sophie S; Majithiya, Jayesh J; McWhirter, Claire C; Martin, Niall M B NMB; Moore, Shaun S; Neves, Joana J; Rajendra, Eeson E; Ranzani, Marco M; Schaedler, Theresia T; Stockley, Martin M; Wiggins, Kimberley K; Brough, Rachel R; Sridhar, Sandhya S; Gulati, Aditi A; Shao, Nan N; Badder, Luned M LM; Novo, Daniela D; Knight, Eleanor G EG; Marlow, Rebecca R; Haider, Syed S; Callen, Elsa E; Hewitt, Graeme G; Schimmel, Joost J; Prevo, Remko R; Alli, Christina C; Ferdinand, Amanda A; Bell, Cameron C; Blencowe, Peter P; Bot, Chris C; Calder, Mathew M; Charles, Mark M; Curry, Jayne J; Ekwuru, Tennyson T; Ewings, Katherine K; Krajewski, Wojciech W; MacDonald, Ellen E; McCarron, Hollie H; Pang, Leon L; Pedder, Chris C; Rigoreau, Laurent L; Swarbrick, Martin M; Wheatley, Ed E; Willis, Simon S; Wong, Ai Ching AC; Nussenzweig, Andre A; Tijsterman, Marcel M; Tutt, Andrew A; Boulton, Simon J SJ; Higgins, Geoff S GS; Pettitt, Stephen J SJ; Smith, Graeme C M GCM; Lord, Christopher J CJ
Publication Date: 2021-06-17

Variant appearance in text: BRCA2: A75G
PubMed Link: 34140467
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_23463.pdf
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 224C>G; Ala75Gly
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: BRCA2: Ala75Gly
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.

Npj Genomic Medicine
Scocchia, Alicia A; Wigby, Kristen M KM; Masser-Frye, Diane D; Del Campo, Miguel M; Galarreta, Carolina I CI; Thorpe, Erin E; McEachern, Julia J; Robinson, Keisha K; Gross, Andrew A; , ; Ajay, Subramanian S SS; Rajan, Vani V; Perry, Denise L DL; Belmont, John W JW; Bentley, David R DR; Jones, Marilyn C MC; Taft, Ryan J RJ
Publication Date: 2019

Variant appearance in text: BRCA2: 224C>G
PubMed Link: 30792901
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA2: A75G
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page