BRCA2 c.842A>G ;(p.D281G)

Variant ID: 13-32906457-A-G

NM_000059.3(BRCA2):c.842A>G;(p.D281G)

This variant was identified in 7 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: D281G
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Plos One
Conroy, Jeffrey M JM; Pabla, Sarabjot S; Glenn, Sean T ST; Seager, R J RJ; Van Roey, Erik E; Gao, Shuang S; Burgher, Blake B; Andreas, Jonathan J; Giamo, Vincent V; Mallon, Melissa M; Lee, Yong Hee YH; DePietro, Paul P; Nesline, Mary M; Wang, Yirong Y; Lenzo, Felicia L FL; Klein, Roger R; Zhang, Shengle S
Publication Date: 2021

Variant appearance in text: BRCA2: 842A>G
PubMed Link: 34855780
Variant Present in the following documents:
  • pone.0260089.s001.xlsx, sheet 12
View BVdb publication page



A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Plos One
Conroy, Jeffrey M JM; Pabla, Sarabjot S; Glenn, Sean T ST; Seager, R J RJ; Van Roey, Erik E; Gao, Shuang S; Burgher, Blake B; Andreas, Jonathan J; Giamo, Vincent V; Mallon, Melissa M; Lee, Yong Hee YH; DePietro, Paul P; Nesline, Mary M; Wang, Yirong Y; Lenzo, Felicia L FL; Klein, Roger R; Zhang, Shengle S
Publication Date: 2021

Variant appearance in text: BRCA2: 842A>G
PubMed Link: 34855780
Variant Present in the following documents:
  • pone.0260089.s001.xlsx, sheet 12
View BVdb publication page



Replication catastrophe is responsible for intrinsic PAR glycohydrolase inhibitor-sensitivity in patient-derived ovarian cancer models.

Journal Of Experimental & Clinical Cancer Research : Cr
Coulson-Gilmer, Camilla C; Morgan, Robert D RD; Nelson, Louisa L; Barnes, Bethany M BM; Tighe, Anthony A; Wardenaar, René R; Spierings, Diana C J DCJ; Schlecht, Helene H; Burghel, George J GJ; Foijer, Floris F; Desai, Sudha S; McGrail, Joanne C JC; Taylor, Stephen S SS
Publication Date: 2021-10-16

Variant appearance in text: BRCA2: D281G
PubMed Link: 34656146
Variant Present in the following documents:
  • 13046_2021_2124_MOESM10_ESM.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA2: D281G
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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: 842A>G; Asp281Gly
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC
Publication Date: 2020-05

Variant appearance in text: BRCA2: 842A>G; D281G; rs1555281610
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 1
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: D281G
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page