BARD1 c.353A>G ;(p.N118S)

Variant ID: 2-215657032-T-C

NM_000465.2(BARD1):c.353A>G;(p.N118S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: BARD1: N118S
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc4.xlsx, sheet 6
View BVdb publication page



Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports
Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2022-03-09

Variant appearance in text: BARD1: 353A>G
PubMed Link: 35264596
Variant Present in the following documents:
  • 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1
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: BARD1: 353A>G; Asn118Ser; rs142864491
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The Quandary of DNA-Based Treatment Assessment in De Novo Metastatic Prostate Cancer in the Era of Precision Oncology.

Journal Of Personalized Medicine
Nakken, Sigve S; Lilleby, Wolfgang W; Switlyk, Marta D MD; Knudsen, Karen E KE; Lilleby, Oscar O; Zhao, Sen S; Kaveh, Fatemeh F; Ekstrøm, Per O PO; Urbanucci, Alfonso A; Hovig, Eivind E
Publication Date: 2021-04-22

Variant appearance in text: BARD1: Asn118Ser
PubMed Link: 33922147
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.

Plos Genetics
Adamovich, Aleksandra I AI; Banerjee, Tapahsama T; Wingo, Margaret M; Duncan, Kathryn K; Ning, Jie J; Martins Rodrigues, Fernanda F; Huang, Kuan-Lin KL; Lee, Cindy C; Chen, Feng F; Ding, Li L; Parvin, Jeffrey D JD
Publication Date: 2019-03

Variant appearance in text: BARD1: N118S
PubMed Link: 30925164
Variant Present in the following documents:
  • pgen.1008049.s001.xlsx, sheet 1
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: rs142864491
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 6
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: BARD1: 353A>G; Asn118Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page