BRCA2 c.1395A>C ;(p.V465=)

Variant ID: 13-32907010-A-C

NM_000059.3(BRCA2):c.1395A>C;(p.V465=)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: BRCA2: 1395A>C
PubMed Link: 36865205
Variant Present in the following documents:
  • media-8.xlsx, sheet 1
  • media-10.xlsx, sheet 1
View BVdb publication page



Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.

Oncotarget
Ebner, Silvana S; Winkelmann, Ria R; Martin, Saskia S; Köllermann, Jens J; Wild, Peter J PJ; Demes, Melanie M
Publication Date: 2022

Variant appearance in text: BRCA2: 1395A>C
PubMed Link: 35251494
Variant Present in the following documents:
  • Main text
  • oncotarget-13-28213.pdf
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: BRCA2: 1395A>C
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.

Prostate Cancer And Prostatic Diseases
Petrovics, Gyorgy G; Price, Douglas K DK; Lou, Hong H; Chen, Yongmei Y; Garland, Lisa L; Bass, Sara S; Jones, Kristine K; Kohaar, Indu I; Ali, Amina A; Ravindranath, Lakshmi L; Young, Denise D; Cullen, Jennifer J; Dorsey, Tiffany H TH; Sesterhenn, Isabell A IA; Brassell, Stephen A SA; Rosner, Inger L IL; Ross, Doug D; Dahut, William W; Ambs, Stefan S; Figg, William Douglas WD; Srivastava, Shiv S; Dean, Michael M
Publication Date: 2019-09

Variant appearance in text: N/A
PubMed Link: 30542053
Variant Present in the following documents:
View BVdb publication page



Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?

Frontiers In Genetics
Zuntini, Roberta R; Ferrari, Simona S; Bonora, Elena E; Buscherini, Francesco F; Bertonazzi, Benedetta B; Grippa, Mina M; Godino, Lea L; Miccoli, Sara S; Turchetti, Daniela D
Publication Date: 2018

Variant appearance in text: BRCA2: 1395A>C
PubMed Link: 30254663
Variant Present in the following documents:
  • Main text
  • fgene-09-00378.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRCA2: 1395A>C; Val465=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

European Journal Of Human Genetics : Ejhg
Byers, Helen H; Wallis, Yvonne Y; van Veen, Elke M EM; Lalloo, Fiona F; Reay, Kim K; Smith, Philip P; Wallace, Andrew J AJ; Bowers, Naomi N; Newman, William G WG; Evans, D Gareth DG
Publication Date: 2016-11

Variant appearance in text: BRCA2: 1395A>C
PubMed Link: 27273131
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Human Mutation
Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV
Publication Date: 2016-07

Variant appearance in text: BRCA2: 1395A>C; V465V
PubMed Link: 26913838
Variant Present in the following documents:
  • HUMU-37-627-s001.xlsx, sheet 1
View BVdb publication page



Spatial and temporal heterogeneity in high-grade serous ovarian cancer: a phylogenetic analysis.

Plos Medicine
Schwarz, Roland F RF; Ng, Charlotte K Y CK; Cooke, Susanna L SL; Newman, Scott S; Temple, Jillian J; Piskorz, Anna M AM; Gale, Davina D; Sayal, Karen K; Murtaza, Muhammed M; Baldwin, Peter J PJ; Rosenfeld, Nitzan N; Earl, Helena M HM; Sala, Evis E; Jimenez-Linan, Mercedes M; Parkinson, Christine A CA; Markowetz, Florian F; Brenton, James D JD
Publication Date: 2015-02

Variant appearance in text: BRCA2: V465V
PubMed Link: 25710373
Variant Present in the following documents:
  • Main text
  • pmed.1001789.pdf
View BVdb publication page



Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.

Sultan Qaboos University Medical Journal
Lai, Stella S; Brookes, Clare C; Prosser, Debra O DO; Lan, Chuan-Ching CC; Doherty, Elaine E; Love, Donald R DR
Publication Date: 2015-02

Variant appearance in text: BRCA2: 1395A>C; Val465Val
PubMed Link: 25685387
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

European Journal Of Human Genetics : Ejhg
Castéra, Laurent L; Krieger, Sophie S; Rousselin, Antoine A; Legros, Angélina A; Baumann, Jean-Jacques JJ; Bruet, Olivia O; Brault, Baptiste B; Fouillet, Robin R; Goardon, Nicolas N; Letac, Olivier O; Baert-Desurmont, Stéphanie S; Tinat, Julie J; Bera, Odile O; Dugast, Catherine C; Berthet, Pascaline P; Polycarpe, Florence F; Layet, Valérie V; Hardouin, Agnes A; Frébourg, Thierry T; Vaur, Dominique D
Publication Date: 2014-11

Variant appearance in text: BRCA2: 1395A>C
PubMed Link: 24549055
Variant Present in the following documents:
  • Main text
View BVdb publication page