BRCA2 c.41T>C ;(p.I14T)

Variant ID: 13-32890638-T-C

NM_000059.3(BRCA2):c.41T>C;(p.I14T)

This variant was identified in 4 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: I14T
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
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: 41T>C; Ile14Thr
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: I14T
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Clinical assessment incorporating a personal genome.

Lancet (London, England)
Ashley, Euan A EA; Butte, Atul J AJ; Wheeler, Matthew T MT; Chen, Rong R; Klein, Teri E TE; Dewey, Frederick E FE; Dudley, Joel T JT; Ormond, Kelly E KE; Pavlovic, Aleksandra A; Morgan, Alexander A AA; Pushkarev, Dmitry D; Neff, Norma F NF; Hudgins, Louanne L; Gong, Li L; Hodges, Laura M LM; Berlin, Dorit S DS; Thorn, Caroline F CF; Sangkuhl, Katrin K; Hebert, Joan M JM; Woon, Mark M; Sagreiya, Hersh H; Whaley, Ryan R; Knowles, Joshua W JW; Chou, Michael F MF; Thakuria, Joseph V JV; Rosenbaum, Abraham M AM; Zaranek, Alexander Wait AW; Church, George M GM; Greely, Henry T HT; Quake, Stephen R SR; Altman, Russ B RB
Publication Date: 2010-05-01

Variant appearance in text: BRCA2: I14T
PubMed Link: 20435227
Variant Present in the following documents:
  • Main text
View BVdb publication page