BRCA2 c.2912T>C ;(p.L971S)

Variant ID: 13-32911404-T-C

NM_000059.3(BRCA2):c.2912T>C;(p.L971S)

This variant was identified in 5 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: L971S
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: BRCA2: L971S
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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: 2912T>C; Leu971Ser
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_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: L971S
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Convergent loss of PTEN leads to clinical resistance to a PI(3)Kα inhibitor.

Nature
Juric, Dejan D; Castel, Pau P; Griffith, Malachi M; Griffith, Obi L OL; Won, Helen H HH; Ellis, Haley H; Ebbesen, Saya H SH; Ainscough, Benjamin J BJ; Ramu, Avinash A; Iyer, Gopa G; Shah, Ronak H RH; Huynh, Tiffany T; Mino-Kenudson, Mari M; Sgroi, Dennis D; Isakoff, Steven S; Thabet, Ashraf A; Elamine, Leila L; Solit, David B DB; Lowe, Scott W SW; Quadt, Cornelia C; Peters, Malte M; Derti, Adnan A; Schegel, Robert R; Huang, Alan A; Mardis, Elaine R ER; Berger, Michael F MF; Baselga, José J; Scaltriti, Maurizio M
Publication Date: 2015-02-12

Variant appearance in text: BRCA2: L971S
PubMed Link: 25409150
Variant Present in the following documents:
  • Main text
  • NIHMS634111-supplement-supp_table.xls, sheet 1
  • nihms634111.pdf
View BVdb publication page